✦ LIBER ✦

Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient

✍ Scribed by Cho, Sun Young; Siu, Tak-Shing; Ma, Oliver; Tam, Sidney; Lam, Ching-wan

Book ID: 122787880
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 578 KB
Volume: 425
Category: Article
ISSN: 0009-8981
DOI: 10.1016/j.cca.2013.07.018

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of novel mutations in Spa

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency

✍ Miguel A. Martín; Juan C. Rubio; Pilar del Hoyo; Alberto García; Fernando Bustos 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 2 views

A Novel Nonsense Mutation (515del4) in M

A Novel Nonsense Mutation (515del4) in Muscle Carnitine Palmitoyltransferase II Deficiency

✍ Marcus Deschauer; Thomas Wieser; Rolf Schröder; Stephan Zierz 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 173 KB

A splice junction mutation in muscle car

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

✍ Marcus Deschauer; Zofia M.A Chrzanowska-Lightowlers; Eckhard Biekmann; Morteza P 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 268 KB

Mutations of carnitine palmitoyltransfer

Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency

✍ T Yasuno; H Kaneoka; T Tokuyasu; J Aoki; S Yoshida; M Takayanagi; A Ohtake; M Ka 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 233 KB

Long-Term Follow-Up of Bezafibrate Treat

Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

✍ Bonnefont, J P; Bastin, J; Laforêt, P; Aubey, F; Mogenet, A; Romano, S; Ricquier 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 246 KB

Deficiency of carnitine palmitoyltransfe

Deficiency of carnitine palmitoyltransferase in transformed lymphoblasts from a patient having a deficiency of carnitine palmitoyltransferase in skeletal muscle

✍ Karl Y. Hostetler; Paul J. Yazaki 📂 Article 📅 1980 🏛 Elsevier Science 🌐 English ⚖ 363 KB