✦ LIBER ✦

Identification of two novel mutations inOCTN2of three patients with systemic carnitine deficiency

✍ Scribed by F.M. Vaz; H.R. Scholte; J. Ruiter; L.M. Hussaarts-Odijk; R. Rodrigues Pereira; S. Schweitzer; J.B.C. de Klerk; H.R. Waterham; R.J.A. Wanders

Publisher: Springer
Year: 1999
Tongue: English
Weight: 68 KB
Volume: 105
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004399900105

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

Identification of two novel mutations of

Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency

✍ A. Ogawa; S. Yamamoto; M. Kanazawa; M. Takayanagi; S. Hasegawa; Y. Kohno 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 106 KB

Molecular analysis of dihydropteridine r

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

✍ Hiroyuki Ikeda; Y. Matsubara; Hitoshi Mikami; Shigeo Kure; Misao Owada; Tamara G 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 85 KB

Two novel missense mutations of the OCTN

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

✍ E. Mayatepek; J. Nezu; I. Tamai; A. Oku; M. Katsura; M. Shimane; A. Tsuji 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder of fatty acid oxidation caused by defective cellular carnitine transport. The disease is characterized by metabolic derangement simulating Reye´s syndrome, hypoglcaemia, progressive cardiomyopathy and skeletal myopathy. R

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

Two novel CYP21A2 missense mutations in

Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation

✍ Paola Concolino; Francesca Vendittelli; Enrica Mello; Cristiana Carelli Alinovi; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB

## Abstract Steroid 21‐hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17‐hydroxyp