Ceramidase deficiency in Farber's disease (lipogranulomatosis).
Science
; 178(4065): 1100-2, 1972 Dec 08.
Article
em En
| MEDLINE
| ID: mdl-4678225
ABSTRACT
Ceramidase activity could not be demonstrated in the kidney and cerebellum from a deceased patient with Farber's disease, whereas the activities of six control acid hydrolase enzymes appeared normal. This enzyme defect presumably accounts for the accumulation that has been described in two patients and may represent the biochemical basis of this disorder.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hidrolases
/
Rim
/
Lipidoses
Limite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Science
Ano de publicação:
1972
Tipo de documento:
Article