What syndrome is this?

Pediatric Dermatology

Volumn 19, Issue 1, 2002, Pages 85-87

  Chang, Anwell ^a   Kahn, Teri ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANHIDROSIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CORNEA OPACITY; DISEASE COURSE; FABRY DISEASE; FEMALE; HEMANGIOKERATOMA; HUMAN; PAPULE; PRIORITY JOURNAL; GENETICS; HETEROZYGOTE; PATHOLOGY; SKIN TUMOR;

ANGIOKERATOMA; CHILD; FABRY DISEASE; FEMALE; HETEROZYGOTE; HUMANS; SKIN NEOPLASMS;

EID: 0036358405     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1525-1470.2002.00025.x     Document Type: Article

References (16)

1. Fabry disease: α-galactosidase A deficiency
2. Disorders of metabolism
3. Fabry's disease - A case report and review of literatures reported in Korea
4. Fabry's disease: Ocular and associated findings
5. A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody
6. Fabry disease
7. Atypical Fabry's disease
8. Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation
9. Recurrence of Fabry's disease in a renal allograft 14 years after transplantation
10. α-Galactosidase A deficiency: Fabry disease
11. Subtle clues to diagnosis of skin diseases by electron microscopy
12. Fabry's disease in a heterozygous woman
13. Kidney involvement in Anderson-Fabry disease
14. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the α-galactosidase A gene
15. Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease
16. Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi