๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Functional Characterization of the Carnitine Transporter Defective in Primary Carnitine Deficiency

โœ Scribed by Fernando Scaglia; Yuhuan Wang; Nicola Longo


Book ID
115567540
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
107 KB
Volume
364
Category
Article
ISSN
0003-9861

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Pharmacological rescue of carnitine tran
โœ Cristina Amat di San Filippo; Marzia Pasquali; Nicola Longo ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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