✦ LIBER ✦

Carnitine deficiency in scleroderma

✍ Scribed by Giuseppe Famularo; Claudio De Simone; Chiara Danese

Book ID: 104299096
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 76 KB
Volume: 20
Category: Article
ISSN: 0167-5699
DOI: 10.1016/s0167-5699(99)01451-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

SYSTEMIC CARNITINE DEFICIENCY

📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB

Carnitine deficiency in haemodialysed pa

Carnitine deficiency in haemodialysed patients

✍ S. Rodriguez-Segade; C.Alonso de la Peña; J.M. Paz; D. Novoa; V. Arcocha; R. Rom 📂 Article 📅 1986 🏛 Elsevier Science 🌐 English ⚖ 615 KB

CARNITINE METABOLISM IN B12 DEFICIENCY

📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 211 KB

Carnitine Palmitoyltransferase Deficienc

Carnitine Palmitoyltransferase Deficiencies

✍ Jean-Paul Bonnefont; France Demaugre; Carina Prip-Buus; Jean-Marie Saudubray; Mi 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 126 KB

Transport of carnitine into cells in her

Transport of carnitine into cells in hereditary carnitine deficiency

✍ B. O. Eriksson; B. Gustafson; S. Lindstedt; I. Nordin 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 274 KB

Pharmacological rescue of carnitine tran

Pharmacological rescue of carnitine transport in primary carnitine deficiency

✍ Cristina Amat di San Filippo; Marzia Pasquali; Nicola Longo 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 640 KB

## Communicated by Nancy Spinner Primary carnitine deficiency is a recessive disorder caused by heterogeneous mutations in the SLC22A5 gene encoding the OCTN2 carnitine transporter. Here we extend mutational analysis to eight new families with this disorder. To determine the mechanism by which miss