1.
J Pediatr
; 89(1): 59-61, 1976 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-932904
RESUMO
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.
Assuntos
Amidoidrolases/deficiência , Ceramidas/metabolismo , Fibroblastos , Granuloma/diagnóstico , Lipidoses/diagnóstico , Feminino , Fibroblastos/enzimologia , Granuloma/enzimologia , Humanos , Gravidez , Pele/patologia
2.
J Pediatr
; 74(1): 90-4, 1969 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-5248635