๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Amniotic fluid propionylcarnitine in methylmalonic aciduria

โœ Scribed by D. Penn; E. Schmidt-Sommerfeld; C. Jakobs; L. L. Bieber


Book ID
105312869
Publisher
Springer
Year
1987
Tongue
English
Weight
396 KB
Volume
10
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Seven novel mutations in mut methylmalon
โœ Charles E. Adjalla; Angela R. Hosack; Brian M. Gilfix; Estelle Lamothe; Sophie S ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 140 KB ๐Ÿ‘ 2 views

Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B 12 derivative, adenosylcobalamin (AdoCbl) as a cofactor. To date, 23 mutations hav