𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Testis – a novel storage site in human cholesteryl ester storage disease

✍ Scribed by M. Elleder; A. Chlumska; J. Ledvinová; H. Poupe˙tová

Publisher
Springer
Year
2000
Tongue
English
Weight
847 KB
Volume
436
Category
Article
ISSN
1432-2307

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

New spectrophotometric assays of acid li
New spectrophotometric assays of acid lipase and their use in the diagnosis of wolman and cholesteryl ester storage diseases
✍ Anne Nègre; Robert Salvayre; Arie Dagan; Carla Borrone; Shimon Gatt 📂 Article 📅 1985 🏛 Elsevier Science 🌐 English ⚖ 572 KB

Trinitrophenylaminolauric acid (TNPAL) was linked to glycerol or cholesterol and the resulting yellow compounds were used as substrates for several lipases and cholesteryl esterase in cells from normal individuals and patients with Wolman's or cholesteryl ester storage diseases. Normal cells (lympho

Different missense mutations in histidin
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
✍ Stefan Ries; Christa Büchler; Gisela Schindler; Charalampos Aslanidis; Detlev Am 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 344 KB

Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity of lysosomal acid lipase (LAL), that leads to the tissue accumulation of cholesteryl esters in endosomes and lysosomes. WD is caused by genetic defects of LAL that