𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and biochemical characteristics of peroxisomal disorders: an update

✍ Scribed by R. J. A. Wanders; P. G. Barth; R. B. H. Schutgens; J. M. Tager


Publisher
Springer
Year
1994
Tongue
English
Weight
460 KB
Volume
153
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Peroxisomal disorders: Clinical and bioc
✍ Steinberg, Steven J.; ElοΏ½ioglu, Nursel; Slade, Christina M.; Sankaralingam, Arun πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 58 KB πŸ‘ 2 views

We describe the main clinical and biochemical findings in 15 patients with peroxisomal disorders, together with the results of 11 prenatal investigations for Zellweger syndrome. The initial laboratory diagnosis depended in most cases on demonstration of elevated very long chain fatty acids in plasma

Autoimmune thyroid disordersβ€”An update
✍ Manorama Swain; Truptirekha Swain; Binoy Kumar Mohanty πŸ“‚ Article πŸ“… 2005 πŸ› Association of Clinical Biochemistry of India 🌐 English βš– 694 KB
Clinical, biochemical, and mutational sp
✍ Sacha Ferdinandusse; Simone Denis; Eveline M. Hogenhout; Janet Koster; Carlo W.T πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 888 KB

Peroxisomal acyl-coenzyme A (acyl-CoA) oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (SCOX). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Although s