The 271 references in paper D.P. Germain, K. Smirnov A., Д. П. Гермэйн, К. Смирнов А. (2012) “БОЛЕЗНЬ ФАБРИ // FABRY DISEASE” / spz:neicon:nefr:y:2012:i:1:p:9-53

1
Anderson W. A case of «Angeio-keratoma». Br J Dermatol 1898; 10:113-117
(check this in PDF content)
2
Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorragica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch Dermatol Syphilol 1898; 43:187-200
(check this in PDF content)
3
Sweeley CC, Klionsky B. Fabry’s disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 1963; 238:3148-3150
(check this in PDF content)
4
Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry’s disease: ceramide-trihexosidase deficiency. N Engl J Med 1967; 276:1163-1167
(check this in PDF content)
5
Kint JA. The enzyme defect in Fabry’s disease. Nature 1970; 227:1173
(check this in PDF content)
6
Duve C. Exploring cells with a centrifuge. Science 1975; 189:186-194
(check this in PDF content)
7
Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In The metabolic and molecular bases of inherited disease. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. New York, McGraw Hill; 2001; 3733-3774
(check this in PDF content)
8
Popli S, Leehey DJ, Molnar ZV, et al. Demonstration of Fabry’s disease deposits in placenta. Am J Obstet Gynecol 1990; 162: 464-465
(check this in PDF content)
9
Vedder AC, Strijland A, vd Bergh Weerman MA, et al. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis 2006; 29: 106-111
(check this in PDF content)
10
Hers HG. Inborn Lysosomal Diseases. Gastroenterology 1965; 48:625-633
(check this in PDF content)
11
Neufeld EF. Lysosomal storage diseases. Annu Rev Biochem 1991; 60:257-280
(check this in PDF content)
12
Lucke T, Hoppner W, Schmidt E, et al. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab 2004; 82:93-97
(check this in PDF content)
13
Palecek T, Bultas J, Hajek M, et al. Association between cardiac energy metabolism and gain of left ventricular mass in Fabry disease. Int J Cardiol 2009; 144:337-339
(check this in PDF content)
14
Das AM, Naim HY. Biochemical basis of Fabry disease with emphasis on mitochondrial function and protein trafficking. Adv Clin Chem 2009; 49:57-71
(check this in PDF content)
15
Park JL, Shu L, Shayman JA. Differential involvement of COX1 and COX2 in the vasculopathy associated with the {alpha}galactosidase A-knockout mouse. Am J Physiol Heart Circ Physiol 2009; 296:1133-1140
(check this in PDF content)
16
Park S, Kim JA, Joo KY, et al. Globotriaosylceramide leads to KCa3.1 channel dysfunction: A new insight into endothelial dysfunction in Fabry disease. Cardiovasc Res 2010; in press
(check this in PDF content)
17
Shen JS, Meng XL, Moore DF, et al. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 2008; 95:163-168
(check this in PDF content)
18
Chevrier M, Brakch N, Lesueur C, et al. Autophagosome maturation is impaired in Fabry disease. Autophagy 2010; in press
(check this in PDF content)
19
Weidemann F, Breunig F, Beer M, et al. JM: The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 2005; 26:1221-1227
(check this in PDF content)
20
Beer M, Weidemann F, Breunig F, et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry‘s cardiomyopathy. Am J Cardiol 2006; 97:1515-1518
(check this in PDF content)
21
Moon JC, Sheppard M, Reed E, et al. The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease. J Cardiovasc Magn Reson 2006; 8:479-482
(check this in PDF content)
22
Torra R. Renal manifestations in Fabry disease and therapeutic options. Kidney Int Suppl 2008; S29-32
(check this in PDF content)
23
Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. Pediatr Res 2008; 64:550-555
(check this in PDF content)
24
Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008; 93:112-128
(check this in PDF content)
25
Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24:2102-2111
(check this in PDF content)
26
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38:769-775
(check this in PDF content)
27
Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. QJM 2010; 103:641-659
(check this in PDF content)
28
Elleder M, Bradova V, Smid F, et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry’s disease. Virchows Arch Pathol Anat Histopathol 1990; 417:449-455
(check this in PDF content)
29
Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333:288-293
(check this in PDF content)
30
Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, Tei C, Desnick RJ: et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a «renal variant» phenotype. Kidney Int 2003; 64:801-807
(check this in PDF content)
31
Maier EM, Osterrieder S, Whybra C et al. Disease manifestations and × inactivation in heterozygous females with Fabry disease. Acta Paediatr Suppl 2006; 95:30-38
(check this in PDF content)
32
Migeon BR. X inactivation, female mosaicism, and sex differences in renal diseases. J Am Soc Nephrol 2008; 19:2052-2059
(check this in PDF content)
33
Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105:151-156
(check this in PDF content)
34
Meikle PJ, Hopwood JJ, Clague AE, Carrey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281:249-254
(check this in PDF content)
35
Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006; 79:31-40
(check this in PDF content)
36
Hwu WL, Chien YH, Lee NC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G > A (IVS4+919G > A). Hum Mutat 2009; 30:1397-1405
(check this in PDF content)
37
Lin HY, Chong KW, Hsu JH, et al. High Incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2009;, 2:450-456
(check this in PDF content)
38
Dutsch M, Marthol H, Stemper B, et al. Small fiber dysfunction predominates in Fabry neuropathy. J Clin Neurophysiol 2002; 19:575-586
(check this in PDF content)
39
Cable WJ, Kolodny EH, Adams RD. Fabry disease: impaired autonomic function. Neurology 1982; 32:498-502
(check this in PDF content)
40
Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95:86-92
(check this in PDF content)
41
Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr 2004; 144:S20-26.
(check this in PDF content)
42
Zarate YA, Hopkin RJ. Fabry’s disease. Lancet 2008; 372:1427-1435
(check this in PDF content)
43
Hoffmann B, Beck M, Sunder-Plassmann G, et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey. Clin J Pain 2007; 23:535-542
(check this in PDF content)
44
Charrow J. A 14-year-old boy with pain in hands and feet. Pediatr Ann 2009; 38:190-192
(check this in PDF content)
45
Hilz MJ, Stemper B, Kolodny EH. Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. Pain 2000; 84:361-365
(check this in PDF content)
46
Miners AH, Holmes A, Sherr L, et al. Assessment of healthrelated quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. Qual Life Res 2002; 11:127-133
(check this in PDF content)
47
Cole AL, Lee PJ, Hughes DA, et al. Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis 2007; 30:943-951
(check this in PDF content)
48
Naleschinski D, Arning K, Baron R. Fabry disease – Pain doctors have to find the missing ones. Pain 2009; 145:10-11.
(check this in PDF content)
49
Sheth KJ, Werlin SL, Freeman ME, Hodach AE. Gastrointestinal structure and function in Fabry’s disease. Am J Gastroenterol 1981; 76:246-251
(check this in PDF content)
50
Hoffmann B, Schwarz M, Mehta A, Keshav S. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007; 5:1447-1453
(check this in PDF content)
51
Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006; 8:539-548
(check this in PDF content)
52
Kang WH, Chun SI, Lee S. Generalized anhidrosis associated with Fabry’s disease. J Am Acad Dermatol 1987; 17:883-887
(check this in PDF content)
53
Orteu CH, Jansen T, Lidove O, et al. Fabry disease and the skin: data from FOS, the Fabry Outcome Survey. Br J Dermatol 2007; 157:331-337
(check this in PDF content)
54
Gupta SN, Ries M, Murray GJ, et al. Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study. BMC Neurol 2008; 8:41
(check this in PDF content)
55
Shelley ED, Shelley WB, Kurczynski TW. Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr Dermatol 1995; 12:215-219
(check this in PDF content)
56
Germain DP. [Fabry’s disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]. J Soc Biol 2002; 196:161-173
(check this in PDF content)
57
Mohrenschlager M, Braun-Falco M, Ring J, Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol 2003; 4:189-196
(check this in PDF content)
58
Wattanasirichaigoon D, Svasti J, Cairns JR, et al. Clinical and molecular characterization of an extended family with Fabry disease. J Med Assoc Thai 2006; 89:1528-1535
(check this in PDF content)
59
Keilmann A, Hajioff D, Ramaswami U. Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. J Inherit Metab Dis 2009; 32:739-744
(check this in PDF content)
60
Ries M, Gupta S, Moore DF, et al. Pediatric Fabry disease. Pediatrics 2005; 115:e344-355
(check this in PDF content)
61
Kampmann C, Wiethoff CM, Whybra C, et al. Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr 2008; 97:463-469
(check this in PDF content)
62
Cabrera-Salazar MA, O‘Rourke E, Charria-Ortiz G, Barranger JA. Radiological evidence of early cerebral microvascular disease in young children with Fabry disease. J Pediatr 2005; 147:102-105
(check this in PDF content)
63
Gubler MC, Lenoir G, Grunfeld JP, et al. Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int 1978; 13:223-235
(check this in PDF content)
64
Sessa A, Meroni M, Battini G, et al. Renal pathological changes in Fabry disease. J Inherit Metab Dis 2001; 24:66-70
(check this in PDF content)
65
Tondel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 2008; 51:767-776
(check this in PDF content)
66
Ramaswami U, Najafian B, Schieppati A, et al. Assessment of renal pathology and dysfunction in children with Fabry disease. Clin J Am Soc Nephrol 2010; 5:365-370
(check this in PDF content)
67
Schwartz GJ, Haycock GB, Edelmann CM Jr, Spitzer A. A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 1976; 58:259-263
(check this in PDF content)
68
Schwartz GJ, Munoz A, Schneider MF, et al. New equations to estimate GFR in children with CKD. J Am Soc Nephrol 2009; 20:629-637
(check this in PDF content)
69
Counahan R, Chantler C, Ghazali S, et al. Estimation of glomerular filtration rate from plasma creatinine concentration in children. Arch Dis Child 1976; 51:875-878
(check this in PDF content)
70
Tondel C, Ramaswami U, Aakre KM, et al. Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate. Nephrol Dial Transplant 2010; 25:1507-1513
(check this in PDF content)
71
Fogo AB, Bostad L, Svarstad E, et al. Scoring system for renal pathology in Fabry disease: report of the international study group of fabry nephropathy (ISGFN). Nephrol Dial Transplant 2010; 25:2168-2177
(check this in PDF content)
72
Fervenza FC, Torra R, Lager DJ. Fabry disease: an underrecognized cause of proteinuria. Kidney Int 2008; 73:1193-1199
(check this in PDF content)
73
Ortiz A, Oliveira JP, Waldek S, et al. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008; 23:1600-1607
(check this in PDF content)
74
Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002; 81:122-138
(check this in PDF content)
75
Froissart M, Benistan K, Germain DP. [Functional renal investigation in Fabry disease]. Presse Med 2007; 36:S36-42
(check this in PDF content)
76
Wanner C, Oliveira JP, Ortiz A, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: Natural history data from the Fabry Registry. Clin J Am Soc Nephrol 2010; in press
(check this in PDF content)
77
Warnock DG, Valbuena C, West M, Oliveira JP. Renal manifestations of Fabry disease. In Fabry disease. Edited by Elstein D, Altarescu G, Beck M. Dordrecht, Heidelberg, Springer; London, New-York, 2010;211-244
(check this in PDF content)
78
Linhart A, Palecek T, Bultas J, et al. New insights in cardiac structural changes in patients with Fabry’s disease. Am Heart J 2000; 139:1101-1108
(check this in PDF content)
79
Kampmann C, Baehner F, Whybra C, et al. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002; 40:1668-1674
(check this in PDF content)
80
Senechal M, Germain DP. Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients. Clin Genet 2003; 63:46-52
(check this in PDF content)
81
Shah JS, Hughes DA, Sachdev B, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 2005; 96:842-846
(check this in PDF content)
82
Elliott PM, Kindler H, Shah JS, et al. Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart 2006; 92:357-360
(check this in PDF content)
83
Hasegawa H, Takano H, Shindo S, et al. Images in cardiovascular medicine. Transition from left ventricular hypertrophy to massive fibrosis in the cardiac variant of Fabry disease. Circulation 2006; 113:e720-721
(check this in PDF content)
84
Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007; 28:1228-1235
(check this in PDF content)
85
Kampmann C, Linhart A, Baehner F, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008; 130:367-373
(check this in PDF content)
86
Takenaka T, Teraguchi H, Yoshida A, et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. J Cardiol 2008; 51:50-59
(check this in PDF content)
87
Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey. J Med Genet 2009; 46:548-552
(check this in PDF content)
88
Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 2007; 93:528-535
(check this in PDF content)
89
Pieroni M, Chimenti C, Ricci R, et al. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 2003; 107:1978-1984
(check this in PDF content)
90
Pieroni M, Chimenti C, Russo A, et al. Tissue Doppler imaging in Fabry disease. Curr Opin Cardiol 2004, 19:452-457
(check this in PDF content)
91
Weidemann F, Breunig F, Beer M, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003; 108:1299-1301
(check this in PDF content)
92
Palecek T, Dostalova G, Kuchynka P, et al. Right ventricular involvement in Fabry disease. J Am Soc Echocardiogr 2008; 21:1265-1268
(check this in PDF content)
93
Niemann M, Breunig F, Beer M, et al. The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. Heart 2010; in press
(check this in PDF content)
94
Kampmann C, Baehner FA, Whybra C, et al. The right ventricle in Fabry disease. Acta Paediatr Suppl 2005; 94:15-18
(check this in PDF content)
95
Sheth KJ, Thomas JP Jr. Electrocardiograms in Fabry’s disease. J Electrocardiol 1982; 15:153-156
(check this in PDF content)
96
Yokoyama A, Yamazoe M, Shibata A. A case of heterozygous Fabry’s disease with a short PR interval and giant negative T waves. Br Heart J 1987; 57:296-299
(check this in PDF content)
97
Wise D. Short P-R intervals and tachyarrhythmias in Fabry’s disease. Postgrad Med J 1986; 62:969
(check this in PDF content)
98
Ikari Y, Kuwako K, Yamaguchi T. Fabry’s disease with complete atrioventricular block: histological evidence of involvement of the conduction system. British Heart J 1992; 68:323-325
(check this in PDF content)
99
Mehta J, Tuna N, Moller JH, Desnick RJ. Electrocardiographic and vectorcardiographic abnormalities in Fabry‘s disease. Am Heart J 1977; 93:699-705
(check this in PDF content)
100
Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry‘s disease with manifestations confined to the myocardium. N Engl J Med 1991; 324:395-399
(check this in PDF content)
101
Goldman ME, Cantor R, Schwartz MF, et al. Echocardiographic abnormalities and disease severity in Fabry’s disease. J Am Coll Cardiol 1986; 7:1157-1161
(check this in PDF content)
102
Weidemann F, Strotmann JM, Niemann M, et al. Heart valve involvement in Fabry cardiomyopathy. Ultrasound Med Biol 2008; 35:730-735
(check this in PDF content)
103
Kalliokoski RJ, Kalliokoski KK, Sundell J, et al. Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease. J Inherit Metab Dis 2005; 28:563-573
(check this in PDF content)
104
Bierer G, Kamangar N, Balfe D, et al. Cardiopulmonary exercise testing in Fabry disease. Respiration 2005; 72:504-511
(check this in PDF content)
105
Lobo T, Morgan J, Bjorksten A, et al. Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved anaerobic threshold after enzyme replacement. Intern Med J 2008; 38:407-414
(check this in PDF content)
106
Hilz MJ, Marthol H, Schwab S, et al. Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients. J Hypertens 2010; 28:1438-1448
(check this in PDF content)
107
Germain DP, Diebold B, Peyrard S, et al. Aortic root dilatation is highly prevalent in male patients affected with Fabry disease and correlates with the presence of a megadolicho-ectatic basilar artery [abstract]. Am J Hum Genet 2007; 81:300
(check this in PDF content)
108
Kahn P. Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain. J Neurol Neurosurg Psychiatry 1973; 36:1053-1062
(check this in PDF content)
109
Maag R, Binder A, Maier C, et al. Detection of a characteristic painful neuropathy in Fabry disease: A pilot study. Pain Med 2008; 9:1217-1223
(check this in PDF content)
110
Fellgiebel A, Muller MJ, Ginsberg L. CNS manifestations of Fabry’s disease. Lancet Neurol 2006; 5:791-795
(check this in PDF content)
111
Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40:788-794
(check this in PDF content)
112
Mitsias P, Levine SL. Cerebrovascular complications of Fabry’s disease. Ann Neurol 1996; 40:8-17
(check this in PDF content)
113
Clavelou P, Besson G, Elziere C, et al. [Neurological aspects of Fabry’s disease]. Rev Neurol (Paris) 2006; 162:569-580
(check this in PDF content)
114
Mendez MF, Stanley TM, Medel NM, et al. The vascular dementia of Fabry’s disease. Dement Geriatr Cogn Disord 1997; 8:252-257
(check this in PDF content)
115
Okeda R, Nisihara M. An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia. Neuropathology 2008; 28:532-540
(check this in PDF content)
116
Fellgiebel A, Keller I, Marin D, et al. Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology 2009; 72:63-68
(check this in PDF content)
117
DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000; 47:229-233
(check this in PDF content)
118
Moore DF, Scott LT, Gladwin MT, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001; 104:1506-1512
(check this in PDF content)
119
Moore DF, Altarescu G, Ling GS, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002; 33:525-531
(check this in PDF content)
120
Schiffmann R. Fabry disease. Pharmacol Ther 2009, 122:65-77
(check this in PDF content)
121
Kaneski CR, Moore DF, Ries M, et al. Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease. Neurology 2006; 67:2045-2047
(check this in PDF content)
122
Hilz MJ, Kolodny EH, Brys M, et al. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 2004; 251:564-570
(check this in PDF content)
123
Fellgiebel A, Albrecht J, Dellani PR, et al. Quantification of brain tissue alterations in Fabry disease using diffusion-tensor imaging. Acta Paediatr Suppl 2007; 96:33-36
(check this in PDF content)
124
Fazekas F, Kleinert R, Offenbacher H, et al. Pathologic correlates of incidental MRI white matter signal hyperintensities. Neurology 1993; 43:1683-1689
(check this in PDF content)
125
Ginsberg L, Manara R, Valentine AR, et al. Magnetic resonance imaging changes in Fabry disease. Acta Paediatr Suppl 2006; 95:57-62
(check this in PDF content)
126
Tedeschi G, Bonavita S, Banerjee TK, et al. Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study. Neurology 1999; 52:1663-1667
(check this in PDF content)
127
Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998; 50:1746-1749
(check this in PDF content)
128
Jardim L, Vedolin L, Schwartz IV, et al. CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis 2004; 27:229-240
(check this in PDF content)
129
Fellgiebel A, Muller MJ, Mazanek M, et al. White matter lesion severity in male and female patients with Fabry disease. Neurology 2005; 65:600-602
(check this in PDF content)
130
Buechner S, Moretti M, Burlina AP, et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry 2008; 79:1249-1254
(check this in PDF content)
131
Schreiber W, Udvardi A, Kristoferitsch W. Chronic meningitis and lacunar stroke in Fabry disease. J Neurol 2007; 254:1447-1449
(check this in PDF content)
132
Lidove O, Chauveheid MP, Benoist L, et al. Chronic meningitis and thalamic involvement in a woman: Fabry disease expanding phenotype. J Neurol Neurosurg Psychiatry 2007; 78:1007
(check this in PDF content)
133
Moore DF, Ye F, Schiffmann R, Butman JA. Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 2003; 24:1096-1101
(check this in PDF content)
134
Takanashi J, Barkovich AJ, Dillon WP, et al. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol 2003; 24:916-921
(check this in PDF content)
135
Burlina AP, Manara R, Caillaud C, et al. The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol 2008; 255:738-744
(check this in PDF content)
136
Germain DP, Benistan K, Halimi P. Chiari type I malformation in four unrelated patients affected with Fabry disease. Eur J Med Genet 2006; 49:419-425
(check this in PDF content)
137
Germain DP, Avan P, Chassaing A, Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet 2002; 3:10
(check this in PDF content)
138
Sakurai Y, Kojima H, Shiwa M, et al. The hearing status in 12 female and 15 male Japanese Fabry patients. Auris Nasus Larynx 2009; 36:627-632
(check this in PDF content)
139
Conti G, Sergi B. Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females. Acta Paediatr Suppl 2003; 92:33-37
(check this in PDF content)
140
Ries M, Kim HJ, Zalewski CK, et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 2007; 130:143-150
(check this in PDF content)
141
Palla A, Hegemann S, Widmer U, Straumann D. Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy. J Neurol 2007; 254:1433-1442
(check this in PDF content)
142
Orssaud C, Dufier J, Germain DP. Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients. Ophthalmic Genet 2003; 24:129-139
(check this in PDF content)
143
Nguyen TT, Gin T, Nicholls K, et al. Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. Clin Experiment Ophthalmol 2005; 33:164-168
(check this in PDF content)
144
Sodi A, Ioannidis AS, Mehta A, et al. Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91:210-214
(check this in PDF content)
145
Falke K, Buttner A, Schittkowski M, et al. The microstructure of cornea verticillata in Fabry disease and amiodaroneinduced keratopathy: a confocal laser-scanning microscopy study. Graefes Arch Clin Exp Ophthalmol 2009; 247:523-534
(check this in PDF content)
146
Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry’s disease. Arch Ophthalmol 1979; 97:671-676
(check this in PDF content)
147
Rosenberg DM, Ferrans VJ, Fulmer JD, et al. Chronic airflow obstruction in Fabry’s disease. Am J Med 1980; 68:898-905
(check this in PDF content)
148
Brown LK, Miller A, Bhuptani A, et al. Pulmonary involvement in Fabry disease. Am J Respir Crit Care Med 1997; 155:1004-1010
(check this in PDF content)
149
Magage S, Lubanda JC, Germain DP, et al. [Respiratory involvement in patients with Fabry disease]. Med Sci (Paris) 2005; 21:37-39
(check this in PDF content)
150
Magage S, Lubanda JC, Susa Z, et al. Natural history of the respiratory involvement in Anderson-Fabry disease. J Inherit Metab Dis 2007; 30:790-799
(check this in PDF content)
151
Wang RY, Abe JT, Cohen AH, Wilcox WR. Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage. J Inherit Metab Dis 2008; Short Report #126
(check this in PDF content)
152
Germain DP, Benistan K, Khatchikian L, Mutschler C. [Bone involvement in Fabry disease.]. Med Sci (Paris) 2005; 21:43-44
(check this in PDF content)
153
Germain DP, Benistan K, Boutouyrie P, Mutschler C. Osteopenia and osteoporosis: previously unrecognized symptoms of Fabry disease. Clin Genet 2005; 68:93-95
(check this in PDF content)
154
Mersebach H, Johansson JO, Rasmussen AK, et al. Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density. Genet Med 2007; 9:812-818
(check this in PDF content)
155
Germain DP. Bone and muscle involvement in Fabry disease. In Fabry disease. Edited by Elstein D, Altarescu G, Beck M. Dordrecht, Heidelberg, Springer; London, New-York, 2010:293-298
(check this in PDF content)
156
Sadek J, Shellhaas R, Camfield CS, et al. Psychiatric findings in four female carriers of Fabry disease. Psychiatr Genet 2004; 14:199-201
(check this in PDF content)
157
Gold KF, Pastores GM, Botteman MF, et al. Quality of life of patients with Fabry disease. Qual Life Res 2002; 11:317-327
(check this in PDF content)
158
Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet Med 2006; 8:346-353
(check this in PDF content)
159
Crosbie TW, Packman W, Packman S. Psychological aspects of patients with Fabry disease. J Inherit Metab Dis 2009; 32:745-753
(check this in PDF content)
160
Segal P, Kohn Y, Pollak Y, et al. Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study. J Inherit Metab Dis 2010; 33:429-436
(check this in PDF content)
161
Laney DA, Gruskin DJ, Fernhoff PM, et al. Social-adaptive and psychological functioning of patients affected by Fabry disease. J Inherit Metab Dis 2010; 33:429-436
(check this in PDF content)
162
Kleinert J, Dehout F, Schwarting A, et al. Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey. Kidney Int 2005; 67:1955-1960
(check this in PDF content)
163
Oliveira JP, Valbuena C, Baldaia Moreira A, et al. Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease. Virchows Arch 2008; 453:291-300
(check this in PDF content)
164
Boutouyrie P, Laurent S, Laloux B, et al. Non-invasive evaluation of arterial involvement in patients affected with Fabry disease. J Med Genet 2001; 38:629-631
(check this in PDF content)
165
Boutouyrie P, Laurent S, Laloux B, et al. Arterial remodelling in Fabry disease. Acta Paediatr Suppl 2002; 91:62-66
(check this in PDF content)
166
Barbey F, Brakch N, Linhart A, et al. Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease. Acta Paediatr Suppl 2006; 95:63-68
(check this in PDF content)
167
Barbey F, Brakch N, Linhart A, et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol 2006; 26:839-844
(check this in PDF content)
168
Papaxanthos-Roche A, Deminiere C, Bauduer F, et al. Azoospermia as a new feature of Fabry disease. Fertil Steril 2007; 88:212. e215-218
(check this in PDF content)
169
Cox-Brinkman J, Vedder A, Hollak C, et al. Threedimensional face shape in Fabry disease. Eur J Hum Genet 2007; 15:535-542
(check this in PDF content)
170
Hauser AC, Gessl A, Lorenz M, et al. High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease. J Inherit Metab Dis 2005; 28:715-722
(check this in PDF content)
171
Faggiano A, Pisani A, Milone F, et al. Endocrine dysfunction in patients with Fabry disease. J Clin Endocrinol Metab 2006; 91:4319-4325
(check this in PDF content)
172
Amann-Vesti BR, Gitzelmann G, Widmer U, et al. Severe lymphatic microangiopathy in Fabry disease. Lymphat Res Biol 2003; 1:185-189
(check this in PDF content)
173
Ries M, Bettis KE, Choyke P, et al. Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. Kidney Int 2004; 66:978-982
(check this in PDF content)
174
Sayer JA, Haslam P, Brennan P. Parapelvic cysts leading to a diagnosis of Fabry disease. Kidney Int 2008; 74:1366
(check this in PDF content)
175
Foda MM, Mahmood K, Rasuli P, et al. High-flow priapism associated with Fabry’s disease in a child: a case report and review of the literature. Urology 1996; 48:949-952
(check this in PDF content)
176
Backenroth R, Landau EH, Goren M, et al. Fabry disease and G6PD in three family members with priapism: is the nitric oxide pathway to blame? J Sex Med 2010; 7:1588-1591
(check this in PDF content)
177
Germain DP. General aspects of X-linked diseases. In Fabry disease. Perspectives from 5 years of FOS. Edited by Mehta AB, Beck M, Sunder-Plassman G. Oxford, Oxford Pharmagenesis; 2006; 63-68
(check this in PDF content)
178
Germain DP. [Genetics of Fabry disease: diagnostic and therapeutic implications]. Presse Med 2007; 36:S14-19
(check this in PDF content)
179
Lyon MF. Gene action in the X-chromosome of the mouse (mus musculus L.). Nature 1961; 190:372-373
(check this in PDF content)
180
Dobyns WB, Filauro A, Tomson BN, et al. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A 2004; 129:136-143
(check this in PDF content)
181
Germain DP. [Fabry disease. Clinical and genetic aspects. Therapeutic perspectives]. Rev Med Interne 2000; 21:1086-1103
(check this in PDF content)
182
Whybra C, Kampmann C, Willers I, et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001; 24:715-724
(check this in PDF content)
183
Whybra C, Wendrich K, Ries M, et al. Clinical manifestations in female Fabry disease patients. Contrib Nephrol 2001; 136:245-250
(check this in PDF content)
184
Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007; 30:184-192
(check this in PDF content)
185
Mutoh T, Senda Y, Sugimura K et al. Severe orthostatic hypotension in a female carrier of Fabry’s disease. Arch Neurol 1988; 45:468-472
(check this in PDF content)
186
Galanos J, Nicholls K, Grigg L, et al. Clinical features of Fabry’s disease in Australian patients. Intern Med J 2002; 32:575-584
(check this in PDF content)
187
Germain DP. [Fabry disease in 2004]. Rev Prat 2003; 53:2215-2220
(check this in PDF content)
188
Igawa O, Miake J, Hisatome I. Ventricular tachycardias and dilated cardiomyopathy caused by Fabry disease. Pacing Clin Electrophysiol 2005; 28:1142-1143
(check this in PDF content)
189
Grewal RP, McLatchey SK. Cerebrovascular manifestations in a female carrier of Fabry’s disease. Acta Neurol Belg 1992; 92:36-40
(check this in PDF content)
190
Wendrich K, Whybra C, Ries M, et al. Neurological manifestations of Fabry disease in females. Contrib Nephrol 2001; 136:241-244
(check this in PDF content)
191
Giacomini PS, Shannon PT, Clarke JT, Jaigobin C. Fabry’s disease presenting as stroke in a young female. Can J Neurol Sci 2004; 31:112-114
(check this in PDF content)
192
Kotanko P, Kramar R, Devrnja D, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004; 15:1323-1329
(check this in PDF content)
193
Ichinose M, Nakayama M, Ohashi T, et al. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol 2005; 9:228-232
(check this in PDF content)
194
Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105:1407-1411
(check this in PDF content)
195
Monserrat L, Gimeno-Blanes JR, Marin F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2007; 50:2399-2403
(check this in PDF content)
196
Hagege AA, Caudron E, Damy T, et al. Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filterpaper test: the FOCUS study. Heart 2010; in press
(check this in PDF content)
197
Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366:1794-1796
(check this in PDF content)
198
Brouns R, Sheorajpanday R, Braxel E, et al. Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke. Clin Neurol Neurosurg 2007; 109:479-484
(check this in PDF content)
199
Brouns R, Thijs V, Eyskens F, et al. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 2010; 41:863-868
(check this in PDF content)
200
Wozniak MA, Kittner SJ, Tuhrim S, et al. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke
(check this in PDF content)
201
41:78-81 201. Vedder AC, Gerdes VE, Poorthuis BJ, et al. Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males. J Inherit Metab Dis 2007; 30:988
(check this in PDF content)
202
Hauser AC, Lorenz M, Voigtlander T, et al. Results of an ophthalmologic screening programme for identification of cases with Anderson-Fabry disease. Ophthalmologica 2004; 218:207209
(check this in PDF content)
203
Ishii S, Kase R, Sakuraba H, Suzuki Y. Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease. Biochem Biophys Res Commun 1993; 197:1585-1589
(check this in PDF content)
204
Ishii S, Chang HH, Kawasaki K, et al. Mutant alphagalactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. Biochem J 2007; 406:285-295
(check this in PDF content)
205
Kleinert J, Kotanko P, Spada M, et al. Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. Transpl Int 2009; 22:287-292
(check this in PDF content)
206
Linthorst GE, Hollak CE, Korevaar JC, et al. alphaGalactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol Dial Transplant 2003; 18:1581-1584
(check this in PDF content)
207
Germain DP. A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib Nephrol 2001; 136:234-240
(check this in PDF content)
208
Germain DP, Benistan K, Angelova L. [X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease]. Rev Med Int 2010; 31:S209-S214
(check this in PDF content)
209
Sakuraba H, Oshima A, Fukuhara Y, et al. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet 1990; 47:784-789
(check this in PDF content)
210
Eng CM, Resnick-Silverman LA, Niehaus DJ, et al. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet 1993; 53:1186-1197
(check this in PDF content)
211
Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994; 3:103-111
(check this in PDF content)
212
Ploos van Amstel JK, Jansen RP, de Jong JG, et al. Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease. Hum Mol Genet 1994; 3:503-505
(check this in PDF content)
213
Blanch LC, Meaney C, Morris CP. A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. Hum Mutat 1996; 8:38-43
(check this in PDF content)
214
Davies JP, Eng CM, Hill JA, et al. Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet 1996; 4:219-224
(check this in PDF content)
215
Germain DP, Biasotto M, Tosi M, et al. Fluorescenceassisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease. Hum Genet 1996; 98:719-726
(check this in PDF content)
216
Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, et al. Uneven × inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. J Med Genet 1996; 33:682-688
(check this in PDF content)
217
Eng CM, Ashley GA, Burgert TS, et al. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 1997; 3:174-182
(check this in PDF content)
218
Guffon N, Froissart R, Chevalier-Porst F, Maire I. Mutation analysis in 11 French patients with Fabry disease. Hum Mutat 1998; (Suppl 1):S288-290
(check this in PDF content)
219
Germain DP, Poenaru L. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. Biochem Biophys Res Commun 1999; 257:708-713.
(check this in PDF content)
220
Topaloglu AK, Ashley GA, Tong B, et al. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Mol Med 1999; 5:806-811
(check this in PDF content)
221
Ashton-Prolla P, Tong B, Shabbeer J, et al. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 2000; 48:227-235
(check this in PDF content)
222
Kase R, Bierfreund U, Klein A, et al. Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. Biochim Biophys Acta 2000; 1501:227-235
(check this in PDF content)
223
Lee JK, Kim GH, Kim JS, et al. Identification of four novel mutations in five unrelated Korean families with Fabry disease. Clin Genet 2000; 58:228-233
(check this in PDF content)
224
Altarescu GM, Goldfarb LG, Park KY, et al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 2001; 60:46-51
(check this in PDF content)
225
Ashley GA, Shabbeer J, Yasuda M, et al. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. J Hum Genet 2001; 46:192-196
(check this in PDF content)
226
Blaydon D, Hill J, Winchester B. Fabry disease: 20 novel GLA mutations in 35 families. Hum Mutat 2001; 18:459
(check this in PDF content)
227
Germain DP, Salard D, Fellmann F, et al. Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease. Hum Mutat 2001; 17:353
(check this in PDF content)
228
Germain DP. Co-occurrence and contribution of Fabry disease and Klippel-Trenaunay-Weber syndrome to a patient with atypical skin lesions. Clin Genet 2001; 60:63-67
(check this in PDF content)
229
Germain DP, Shabbeer J, Cotigny S, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Mol Med 2002; 8:306-312
(check this in PDF content)
230
Yasuda M, Shabbeer J, Osawa M, Desnick RJ. Fabry disease: novel alpha-galactosidase A 3’-terminal mutations result in multiple transcripts due to aberrant 3’-end formation. Am J Hum Genet 2003; 73:162-173
(check this in PDF content)
231
Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 2004; 337:319-335
(check this in PDF content)
232
Dobrovolny R, Dvorakova L, Ledvinova J, et al. Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase A gene mutation. Am J Med Genet A 2005; 134:84-87
(check this in PDF content)
233
Shabbeer J, Robinson M, Desnick RJ. Detection of alpha-galactosidase A mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum Mutat 2005; 25:299-305
(check this in PDF content)
234
Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl 2005; 94:87-92
(check this in PDF content)
235
Shabbeer J, Yasuda M, Benson SD, Desnick RJ. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2006; 2:297-309
(check this in PDF content)
236
Shimotori M, Maruyama H, Nakamura G, et al. Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. Hum Mutat 2008; 29:331
(check this in PDF content)
237
Bernstein HS, Bishop DF, Astrin KH, et al. Fabry disease: six gene rearrangements and an exonic point mutation in the alphagalactosidase gene. J Clin Invest 1989; 83:1390-1399
(check this in PDF content)
238
Kornreich R, Bishop DF, Desnick RJ. α-Galactosidase A gene rearrangement causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem 1990; 265:9319-9326
(check this in PDF content)
239
Gal A. Molecular genetics of Fabry disease and Genotype-phenotype correlation. In Fabry disease. Edited by Elstein D, Altarescu G, Beck M. Dordrecht, Heidelberg, Springer;London, New-York: 2010:3-19
(check this in PDF content)
240
The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff [http:// www.hgmd.cf.ac.uk.]
(check this in PDF content)
241
Froissart R, Guffon N, Vanier MT, et al. D313Y is an alphagalactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 2003; 80:307-314
(check this in PDF content)
242
Davies JP, Winchester BG, Malcolm S. Sequence variations in the first exon of alpha-galactosidase A. J Med Genet 1993; 30:658-663
(check this in PDF content)
243
Fitzmaurice TF, Desnick RJ, Bishop DF. Human alphagalactosidase A: high plasma activity expressed by the -30G > A allele. J Inherit Metab Dis 1997; 20:643-657
(check this in PDF content)
244
Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA 2008; 105:2812-2817
(check this in PDF content)
245
Guce AI, Garman SC. The structure of human α-galactosidase A and implications for Fabry disease. In Fabry disease. Edited by Elstein D, Altarescu G, Beck M. Dordrecht, Heidelberg, London, New-York: Springer; 2010:21-38
(check this in PDF content)
246
Guce AI, Clark NE, Salgado EN, et al. Catalytic mechanism of human alpha-galactosidase. J Biol Chem 2010; 285:36253632
(check this in PDF content)
247
Linthorst GE, De Rie MA, Tjiam KH, et al. Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion. Br J Dermatol 2004; 150:575-577
(check this in PDF content)
248
Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry’s disease. Clin Chim Acta 1981; 112:247-251
(check this in PDF content)
249
Hoffmann B, Georg Koch H, Schweitzer-Krantz S, et al. Deficient alpha-galactosidase A activity in plasma but no Fabry disease--a pitfall in diagnosis. Clin Chem Lab Med 2005; 43:1276-1277
(check this in PDF content)
250
Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 2005; 353:201-203
(check this in PDF content)
251
Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001; 308:195-196
(check this in PDF content)
252
Caudron E, Moliere D, Zhou JY, et al. [Recent advances of Fabry disease screening for at risk population]. Med Sci (Paris) 2005; 21:48-50
(check this in PDF content)
253
Lukacs Z, Keil A, Kohlschutter A, et al. The ratio of alphagalactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients. J Inherit Metab Dis 2005; 28:803-805
(check this in PDF content)
254
Zhang XK, Elbin CS, Chuang WL, et al. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem 2008; 54:1725-1728
(check this in PDF content)
255
Olivova P, der Veen KV, Cullen E, et al. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper. Clin Chim Acta 2009; 403:159-162
(check this in PDF content)
256
Vedder AC, Linthorst GE, van Breemen MJ, et al. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 2007; 30:68-78
(check this in PDF content)
257
Roy S, Gaudin K, Germain DP, et al. Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease. J Chromatogr B Analyt Technol Biomed Life Sci 2004; 805:331-337
(check this in PDF content)
258
Auray-Blais C, Cyr D, Mills K, et al. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J Inherit Metab Dis 2007; 30:106
(check this in PDF content)
259
Auray-Blais C, Cyr D, Ntwari A, et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 2008;93:331-340
(check this in PDF content)
260
Touboul D, Roy S, Germain DP, et al. Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease. Anal Bioanal Chem 2005; 382:1209-1216
(check this in PDF content)
261
Mills K, Morris P, Lee P, et al. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J Inherit Metab Dis 2005; 28:35-48
(check this in PDF content)
262
Young E, Mills K, Morris P, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl 2005; 94:51-54
(check this in PDF content)
263
Piraud M, de Goiffon F, Froissart R, et al. [Globotriaosylceramide measurement in urine]. Med Sci (Paris) 2005; 21:45-47
(check this in PDF content)
264
Hozumi I, Nishizawa M, Ariga T, Miyatake T. Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry’s disease) in comparison with hemizygotes. J Lipid Res 1990; 31:335-340
(check this in PDF content)
265
Delobel A, Roy S, Touboul D, et al. Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease. J Mass Spectrom 2006l;41:50-58
(check this in PDF content)
266
Touboul D, Roy S, Germain DP, et al. MALDI-TOF and cluster-TOF-SIMS imaging of Fabry disease biomarkers. Int J Mass Spectrometry 2007; 260:158-165
(check this in PDF content)
267
Bishop DF, Calhoun DH, Bernstein HS, et al. Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci USA 1986; 83:4859-4863
(check this in PDF content)
268
Kornreich R, Desnick RJ, Bishop DF. Nucleotide sequence of the human alpha-galactosidase A gene. Nucl Acids Res 1989; 17:3301-3302
(check this in PDF content)
269
Rodriguez-Mari A, Coll MJ, Chabas A. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat 2003; 22:258
(check this in PDF content)
270
Schirinzi A, Centra M, Prattichizzo C, et al. Identification of GLA gene deletions in Fabry patients by Multiplex Ligationdependent Probe Amplification (MLPA). Mol Genet Metab 2008; 94:382-385
(check this in PDF content)
271
Bekri S, Lidove O, Jaussaud R, et al. The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and followup of the efficacy of treatment of Fabry disease: a review of the
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