𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Deficient oxidation of trihydroxycoprostanic acid in liver homogenates from patients with peroxisomal diseases

✍ Scribed by M. Casteels; C. W. T. Van Roermund; L. Schepers; L. Govaert; H. J. Eyssen; G. P. Mannaerts; R. J. A. Wanders

Book ID
105313794
Publisher
Springer
Year
1989
Tongue
English
Weight
590 KB
Volume
12
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Molecular analysis of acid ceramidase de
Molecular analysis of acid ceramidase deficiency in patients with Farber disease
✍ Julia BΓ€r; Thomas Linke; Klaus Ferlinz; Ulrich Neumann; Edward H. Schuchman; Kon πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 319 KB

Farber disease is a rare, autosomal recessively inherited sphingolipid storage disorder due to the deficient activity of lysosomal acid ceramidase, leading to the accumulation of ceramide in cells and tissues. Here we report the identification of six novel mutations in the acid ceramidase gene causi