Fabry disease prenatal diagnosis

Prenatal Diagnosis

Volumn 28, Issue 3, 2008, Pages 268-

  Raas Rothschild, Annick ^a   Lacombe, Didier ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

ALLELE; DECISION MAKING; FABRY DISEASE; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; LETTER; PATIENT COUNSELING; PENETRANCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYMPTOM; X CHROMOSOME INACTIVATION;

FABRY DISEASE; FEMALE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 41149176898     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1942     Document Type: Letter

References (6)

1. Bennett RL, Hart KA, O'Rourke E, et al. 2002. Fabry disease in genetic counseling practice: recommendations of the national society of genetic counselors. J Genet Couns 11: 121-146.
2. Desnick RJ. 2007. Prenatal diagnosis of Fabry disease. Prenat Diagn 27: 693-694.
3. Eng CM, Fletcher J, Wilcox WR, et al. 2007. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 30: 184-192.
4. MacDermot KD, Holmes A, Miners AH. 2001. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38: 769-775.
5. Maier EM, Osterrieder S, Whybra C, et al. 2006. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr 5: 30-38.
6. Waldek S. 2005. Burden of Fabry disease in females and the importance of early therapy: an analysis of Fabry Registry data. In Oral Presentation at SSIEM, Paris, 6-9th.