PMID: 2504515Jul 1, 1989Paper

Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease

Clinical Genetics
Y Ben-YosephT Momoi

Abstract

Severe deficiency of acid ceramidase activity (4-5% of normal) was demonstrated in cultured skin fibroblasts, leukocytes and plasma from a 1-year-old boy who was diagnosed as being affected with Farber disease. Determination of ceramidase activity in plasma was achieved by a highly sensitive assay employing a ceramide substrate containing radiolabeled C12 N-acyl moiety (N-lauryl). The enzyme activity in the parents' leukocytes and plasma was found to be reduced to 18-47% of the respective normal values, and that determined in a plasma specimen from a patient with I-cell disease was about 4 times elevated above the normal level.

References

Jun 1, 1971·Scandinavian Journal of Clinical and Laboratory Investigation·K Samuelsson, R Zetterström

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Citations

Feb 1, 1992·Acta Paediatrica Japonica; Overseas Edition·T FujiwakiK Furusho
Mar 31, 2016·European Journal of Human Genetics : EJHG·Massimiliano FilostoAlessandro Padovani
Jul 22, 2018·Orphanet Journal of Rare Diseases·Fabian P S YuJeffrey A Medin
Dec 15, 2019·International Journal of Molecular Sciences·Nadine BeckmannAlexander Carpinteiro
Jul 14, 2001·The Journal of Biological Chemistry·K FerlinzK Sandhoff
May 9, 2000·Progress in Lipid Research·N AugéT Levade
Jan 1, 1991·Progress in Lipid Research·R N Kolesnick

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