✦ LIBER ✦

The clinical picture of early-onset cobalamin C defect (methylmalonic aciduria and homocystinuria)

✍ Scribed by Frederica Deodato; Sara Boenzi; Cristiano Rizzo; Carlo Dionisi-Vici

Book ID: 118656214
Publisher: Medicine Publishing Company Ltd
Year: 2008
Tongue: English
Weight: 106 KB
Volume: 18
Category: Article
ISSN: 1751-7222
DOI: 10.1016/s1751-7222(08)70019-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical heterogeneity in cobalamin C va

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

✍ Grant A. Mitchell; David Watkins; Serge B. Melançon; David S. Rosenblatt; Guy Ge 📂 Article 📅 1986 🏛 Elsevier Science 🌐 English ⚖ 919 KB

Long-term Visual Outcome of Methylmaloni

Long-term Visual Outcome of Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type

✍ Gizicki, Robert; Robert, Marie-Claude; Gómez-López, Lilianne; Orquin, Jaqueline; 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 567 KB

Minor facial anomalies in combined methy

Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism

✍ R. Cerone; M. C. Schiaffino; U. Caruso; S. Lupino; R. Gatti 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 54 KB

The value of neuroimaging in the assessm

The value of neuroimaging in the assessment and follow-up of early-onset methylmalonic aciduria and homocystinuria

✍ de Benedictis, Fernando M.; de Benedictis, Diletta 📂 Article 📅 2014 🏛 Elsevier 🌐 English ⚖ 160 KB

A clinical and gene analysis of late-ons

A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China

✍ Xianling Wang; Wenjun Sun; Yanhui Yang; Jianping Jia; Cunjiang Li 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 800 KB

Genetic and cellular studies of oxidativ

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

✍ Eva Richard; Ana Jorge-Finnigan; Judit Garcia-Villoria; Begoña Merinero; Lourdes 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 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