✦ LIBER ✦

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

✍ Scribed by A. Ogawa; S. Yamamoto; M. Kanazawa; M. Takayanagi; S. Hasegawa; Y. Kohno

Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 106 KB
Volume: 45
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380050010

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Response to therapy in carnitine/acylcar

Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation

✍ Iacobazzi, Vito ;Pasquali, Marzia ;Singh, Rani ;Matern, Dietrich ;Rinaldo, Piero 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 114 KB

Identification of two novel mutations in

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

✍ F.M. Vaz; H.R. Scholte; J. Ruiter; L.M. Hussaarts-Odijk; R. Rodrigues Pereira; S 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 68 KB

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

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

A novel nonsense mutation of the PEPD ge

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency

✍ S. Kikuchi; A. Tanoue; F. Endo; S. Wakasugi; N. Matsuo; G. Tsujimoto 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 91 KB

Identification and functional analysis o

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria

✍ Marek Orendáè; Ewa Pronicka; Jolanta Kubalska; Miroslav Janosik; Jitka Sokolová; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB 👁 1 views

Homocystinuria due to cystathionine β-synthase (CBS) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. So far, 130 pathogenic mutations have been recognized in the CBS gene. We examined 10 independent al