✦ LIBER ✦

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency

✍ Scribed by Stanley H. Korman; Hans R. Waterham; Alisa Gutman; Cornelis Jakobs; Ronald J.A. Wanders

Book ID: 116987708
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 305 KB
Volume: 86
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2005.07.022

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations in CPT 1A define molecul

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency

✍ Michael J Bennett; Richard L Boriack; Srinivas Narayan; S.Lane Rutledge; Michael 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 311 KB

Successful long-term treatment of hepati

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation

✍ J.M. Stoler; M.A. Sabry; C. Hanley; C.L. Hoppel; V.E. Shih 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 71 KB

Clinical features and new molecular find

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

✍ S. Corti; A. Bordoni; D. Ronchi; O. Musumeci; M. Aguennouz; A. Toscano; C. Lampe 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 509 KB

Biochemical and molecular correlations i

Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency

✍ Georgirene D. Vladutiu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 2 views

Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exerciseinduced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease-causing mu

Molecular analysis in spanish patients w

Molecular analysis in spanish patients with muscle carnitine palmitoyltransferase deficiency

✍ Miguel A. Martín; Juan C. Rubio; Fernando De Bustos; Pilar Del Hoyo; Yolanda Cam 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB 👁 2 views

The most common mutation in muscle carnitine palmitoyltransferase II (CPT II) deficiency is a missense mutation that replaces a leucine for a serine residue at amino acid position 113 of the CPT II protein (S113L). We performed molecular analysis in a group of 14 Spanish patients with CPT II deficie

Pancreatitis and rhabdomyolysis in a pat

Pancreatitis and rhabdomyolysis in a patient with carnitine palmitoyltransferase I deficiency

✍ Douglas Laman; Rita Steffen; Robert Wyllie; Marsha Kay; Barbara Kaplan 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 360 KB