✦ LIBER ✦

Antenatal presentation of carnitine palmitoyltransferase II deficiency

✍ Scribed by Elpeleg, Orly N. ;Hammerman, Cathy ;Saada, Ann ;Shaag, Avraham ;Golzand, Elena ;Hochner-Celnikier, Drorith ;Berger, Itai ;Nadjari, Michel

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 203 KB
Volume: 102
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1457

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations associated with carnitin

Novel mutations associated with carnitine palmitoyltransferase II deficiency

✍ R. Thomas Taggart; David Smail; Christopher Apolito; Georgirene D. Vladutiu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 485 KB 👁 2 views

The most common form of carnitine palmitoyltransferase II (CPT II) deficiency occurs in adults and is characterized by muscle pain, stiffness, and myoglobinuria, triggered by exercise, fasting, or other metabolic stress. This study reports the molecular heterogeneity of CPT2 mutations and their bioc

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 👁 1 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

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

Carnitine-palmitoyltransferase 2 deficie

Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

✍ Sabine Illsinger; Thomas Lücke; Michael Peter; Jos P.N. Ruiter; Ronald J.A. Wand 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB

Two CPT2 mutations in three Japanese pat

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

✍ Kaoru Wataya; Jun Akanuma; Patrizia Cavadini; Yoko Aoki; Shigeo Kure; Federica I 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB 👁 2 views

## Carnitine palmitoyltransferase II (CPT II) deficiency manifests as two different clinical phenotypes: a muscular form and a hepatic form. We have investigated three nonconsanguineous Japanese patients with CPT II deficiency. Molecular analysis revealed two missense mutations, a glutamate (174)to