✦ LIBER ✦

The effects of L-alanine supplementation in late-onset glycogen storage disease type II

✍ Scribed by Bodamer, O. A. F.; Halliday, D.; Leonard, J. V.

Book ID: 127117938
Publisher: Lippincott Williams and Wilkins
Year: 2000
Tongue: English
Weight: 117 KB
Volume: 55
Category: Article
ISSN: 0028-3878
DOI: 10.1212/wnl.55.5.710

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

l-alanine supplementation in late infant

l-alanine supplementation in late infantile glycogen storage disease type II

✍ Olaf A Bodamer; Dorothea Haas; Monique M Hermans; Arnold J Reuser; Georg F Hoffm 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 36 KB

The effect ofL-alanine therapy in a pati

The effect ofL-alanine therapy in a patient with adult onset glycogen storage disease type II

✍ H. R. Mundy; J. E. Williams; A. J. Cousins; P. J. Lee 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 228 KB

Molecular diagnosis of German patients w

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

✍ P. R. Joshi; D. Gläser; S. Schmidt; M. Vorgerd; M. Winterholler; K. Eger; S. Zie 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 105 KB

Two new missense mutations of GAA in lat

Two new missense mutations of GAA in late onset glycogen storage disease type II

✍ Young-Eun Park; Kyu-Hyun Park; Chang-Hoon Lee; Cheol-Min Kim; Dae-Seong Kim 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 276 KB

Exercise testing in late-onset glycogen

Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy

✍ Marzorati, Mauro; Porcelli, Simone; Bellistri, Giuseppe; Morandi, Lucia; Grassi, 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 367 KB

Mutation profile of the GAA gene in 40 I

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

✍ A.L.E. Montalvo; B. Bembi; M. Donnarumma; M. Filocamo; G. Parenti; M. Rossi; L. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB 👁 1 views

Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Itali