[Krabbe's disease. Clinical, ultrastructural and enzymatic study. A case report].
Piussan
C
C
Turpin
J C
JC
Risbourg
B
B
Mikol
J
J
Audebert
M
M
Reguet
C
C
Helsemans
C
C
D000118:Acetylglucosaminidase / Q000032:analysis / Q000235:genetics / Q000378:metabolism; D001706:Biopsy; D018450:Disease Progression; D017809:Fatal Outcome; D005347:Fibroblasts / Q000737:chemistry; D005698:Galactosylceramidase / Q000032:analysis / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006651:Histocytochemistry; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000737:chemistry; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008297:Male; D008854:Microscopy, Electron; D015997:Neonatal Screening; D009431:Neural Conduction; D010375:Pedigree; D011296:Prenatal Diagnosis; D012584:Sciatic Nerve / Q000473:pathology / Q000648:ultrastructure
D005698:Galactosylceramidase; D000118:Acetylglucosaminidase