Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts

Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts

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 carri...

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Veröffentlicht in:The Journal of pediatrics 1976-01, Vol.89 (1), p.59-61
Hauptverfasser: Dulaney, John T., Milunsky, Aubrey, Sidbury, James B., Hobolth, Niels, Moser, Hugo W.
Format: Artikel
Sprache:eng
Schlagworte:
Amidohydrolases - deficiency
Ceramides - metabolism
Female
Fibroblasts - enzymology
Granuloma - diagnosis
Granuloma - enzymology
Humans
Lipidoses - diagnosis
Pregnancy
Skin - pathology
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Zusammenfassung: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(76)80927-4