Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts.
J Pediatr
; 89(1): 59-61, 1976 Jul.
Article
en En
| MEDLINE
| ID: mdl-932904
The enzyme defect in Farber disease, a deficiency of acid ceramidase, has been demonstrated in cultured skin fibroblasts, which provides a means of confirming the diagnosis during life. The assay can also be performed using cultured amniotic fluid cells and is a potential tool for detection of carriers of the disease.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ceramidas
/
Fibroblastos
/
Amidohidrolasas
/
Granuloma
/
Lipidosis
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
J Pediatr
Año:
1976
Tipo del documento:
Article
Pais de publicación:
Estados Unidos