A successful approach for the detection of Fabry patients in Argentina

Clinical Genetics

Volumn 69, Issue 4, 2006, Pages 344-348

  Rozenfeld, Paula A ^a   Tarabuso, A ^b   Ebner, R ^c   Ramallo, G ^d   Fossati, C A ^a  

^a UNIVERSIDAD NACIONAL DE LA PLATA   (Argentina)

^b Hospital de Puerto Madryn   (Argentina)

^c HOSPITAL BRITÁNICO DE BUENOS AIRES   (Argentina)

^d Hospital Interzonal Dr Jose Penna   (Argentina)

Author keywords

Alpha galactosidase; Diagnosis; Fabrydisease; Lysosomal storage disorder

Indexed keywords

ALPHA GALACTOSIDASE; ASPARTIC ACID; CYSTEINE; HISTIDINE; LEUCINE; PROLINE; TRYPTOPHAN; TYROSINE;

ARGENTINA; ARTICLE; BLOOD SAMPLING; ENZYMATIC ASSAY; ENZYME ACTIVITY; FABRY DISEASE; FAMILY; FEMALE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; MISSENSE MUTATION; PRIORITY JOURNAL; SYMPTOM;

ADULT; ALPHA-GALACTOSIDASE; ARGENTINA; COHORT STUDIES; FABRY DISEASE; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MULTIPHASIC SCREENING; PHENOTYPE;

EID: 33645463875     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00594.x     Document Type: Article

References (22)

1. Brady RO, Gal AE, Bradley RM et al. Enzymatic defect in Fabry disease. N Engl J Med 1967: 276: 1163-1167.
2. Kint JA. Fabry disease. Alpha galactosidase deficiency. Science 1970: 167: 1268-1269.
3. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WX, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995: 2741-2784.
4. Meikle PJ, Hopwood JJ, Clague AE et al. Prevalence of lysosomal storage disorders. JAMA 1999: 281: 249-254.
5. Ries M, Gupta S, Moore D et al. Pediatric Fabry disease. Pediatrics E2005: 115: e344-e355.
6. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001: 38: 750-760.
7. Nakao S, Takenaka T, Maeda M et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Eng J Med 1995: 333: 288-293.
8. Whybra C, Kampmann C, Willers I. Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001: 24: 715-724.
9. Desnick RJ, Allen YK, Desnick S et al. Fabry's disease: Enzymatic diagnosis of hemyzigotes and heterozygotes. α-Galactosidase A activities in plasma, serum, urine and leukocytes. J Lab Clin Med 1973: 81: 157-171.
10. Chamoles N, Blanco M, Gaggioli D. Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001: 308: 195-196.
11. Spence MW, Goldbloom AL, Burgness JK et al. Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). J Med Genet 1977: 14: 91-99.
12. Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 2004: 337: 319-335.
13. Rodriguez A, Pietropaolo N, Cabrera H et al. Angioqueratoma corporis diffusum por deficiencia de alfa galactosidasa A. Arch Argent Dermatol 1992: T XLII: 59-71.
14. Larralde M, Boggio P, Amartino H et al. A study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations. Arch Dermatol 2004: 140: 1440-1446.
15. Devost NC, Choy FYM. Mutation analysis of Gaucher disease using dot-blood samples on FTA filter paper. Am J Med Genet 2000: 94: 417-420.
16. 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.
17. Nakao S, Kodama C, Takenaka T et al. Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a 'renal variant' phenotype. Kidney Int 2003: 64: 801-807.
18. Linthorst GE, Vedder AC, Aerts JM et al. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 2005: 353: 201-203.
19. Schäfer E, Baron K, Widmer U et al. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat 2005: 25: 412-418.
20. 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.
21. Mehta A, Ricci R, Widmer U et al. Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004: 34: 236-242.
22. 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.