[Anderson-Fabry disease. Current status. Apropos of a case].
After submitting a typical case of Anderson-Fabry disease in a 38 years old male, we discuss the eminent aspects of this metabolic disorder and, above all, the clinical, biochemical and ultrastructural problems of diagnosis in the heterozygotic relatives.
Vidal
J
J
Sección de Dermatología del Hospital del Valle de Hebrón, Universidad Autónoma de Barcelona.
Pedragosa
R
R
Serrano
S
S
Valles
M
M
D000328:Adult; D000505:Alopecia / Q000209:etiology; D000795:Fabry Disease / Q000150:complications* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D014960:X Chromosome
Enfermedad de Anderson-Fabry. Situación actual. A propósito de un caso.