[Fabry's disease in children. Clinical and biological study of one family. Structure and ultrastructure of the kidney in a hemizygote and a heterozygote].
Desbois
J C
JC
Mazière
J C
JC
Gubler
M C
MC
Allaneau
C
C
Verhaeghe
M P
MP
Herrault
A
A
D000328:Adult; D000794:Angiokeratoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006028:Glycosphingolipids / Q000652:urine; D006801:Humans; D007668:Kidney / Q000473:pathology*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008854:Microscopy, Electron; D012729:Sex Chromosome Aberrations; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D014281:Trihexosylceramides / Q000652:urine
D006028:Glycosphingolipids; D014281:Trihexosylceramides; C012905:dihexosylceramide