𝔖 Bobbio Scriptorium
✦   LIBER   ✦

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria

✍ Scribed by Laurie E. Profitlich; Brian Kirmse; Melissa P. Wasserstein; George A. Diaz; Shubhika Srivastava


Book ID
116988699
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
753 KB
Volume
98
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Genetic and cellular studies of oxidativ
✍ Eva Richard; Ana Jorge-Finnigan; Judit Garcia-Villoria; BegoΓ±a Merinero; Lourdes πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 254 KB

Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B 12 metabolism. The aim of this work was to identify the mutational spectrum in a cohort of cblC-affected patients and the analysis of the cellular oxidative