✦ LIBER ✦

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

✍ Scribed by Xianling Wang; Wenjun Sun; Yanhui Yang; Jianping Jia; Cunjiang Li

Book ID: 119304493
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 800 KB
Volume: 318
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2012.04.012

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Late-onset combined homocystinuria and m

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

✍ Anne Chun-Hui Tsai; Chantal F. Morel; Gunter Scharer; Michael Yang; Jordan P. Le 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 130 KB 👁 2 views

Clinical heterogeneity and prognosis in

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)

✍ D. S. Rosenblatt; A. L. Aspler; M. I. Shevell; B. A. Pletcher; W. A. Fenton; M. 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 50 KB

Marfanoid features in a child with combi

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)

✍ Sandra G. Heil; Marije Hogeveen; Leo A. J. Kluijtmans; P. J. van Dijken; Gerard 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 173 KB

Spectrum of MMACHC mutations in Italian

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

✍ Célia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins; Ubaldo Caruso; 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 635 KB

Different altered pattern expression of

Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type

✍ Ana Jorge-Finnigan; Alejandra Gámez; Belén Pérez; Magdalena Ugarte; Eva Richard 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 523 KB

Clinical, biochemical, and molecular ana

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China

✍ Fei Wang,Lianshu Han,Yanling Yang,Xuefan Gu… 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 163 KB