๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

79 Genetic, biochemical, and clinical features of lcat deficiency in italy


Book ID
117638706
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
158 KB
Volume
15
Category
Article
ISSN
0939-4753

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Clinical, genetic, and biochemical featu
โœ Corey, Seth J.; Beutler, Ernest ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 145 KB ๐Ÿ‘ 1 views

A new mutation of the G-6PD gene at position 910 is described. Biochemical analysis suggests that a conformational change results in the enzymatic deficiency associated with G-6PDWeS' Virg'n'a. o 1996 Wiley-Liss, Inc.

Isolated complex I deficiency in childre
โœ J.L.C.M. Loeffen; J.A.M. Smeitink; J.M.F. Trijbels; A.J.M. Janssen; R.H. Triepel ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 282 KB ๐Ÿ‘ 2 views

## Communicated by Johannes Zschocke We retrospectively examined clinical and biochemical characteristics of 27 patients with isolated enzymatic complex I deficiency (established in cultured skin fibroblasts) in whom common pathogenic mtDNA point mutations and major rearrangements were absent. Clin