๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetyl-coenzyme-A thiolase

โœ Scribed by Moacir Walner; Maria Tareza Sansavsrlno; Roberto Glugliani; Laurence Sweetman; Seljl Yamaguchl; Toshiyukl Fukao; Vivian E. Shlh


Book ID
115091338
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
441 KB
Volume
41
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Molecular studies of mitochondrial aceto
โœ Toshiyuki Fukao; Seiji Yamaguchi; Charles R. Scriver; Gail Dunbar; Akihiro Wakaz ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 652 KB

## Communicated by R.G.H. Cotton We describe mutations identified in stored skin fibroblast cell lines from two original prohands (JB and JM), first reported with 2methylacetoacetic aciduria, and shown later to have a deficiency of the K+ -activated enzyme, mitochondrial acetoacetyl-coenzyme A thi

Molecular basis of ฮฒ-ketothiolase defici
โœ Toshiyuki Fukao; Seiji Yamaguchi; Tadao Orii; Takashi Hashimoto ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 669 KB

Communicated by R. G. H. Cotton P-Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl-CoA thiolase (T2). We present here an update on mutations and polymorphisms in the human T 2 gene. N o large deletion or insertion has been observed in Southern blot analysis. Seventeen mutations w