𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Primary carnitine deficiency

✍ Scribed by Stanley, C.A.


Book ID
123256575
Publisher
Elsevier Science
Year
1989
Tongue
English
Weight
154 KB
Volume
43
Category
Article
ISSN
0753-3322

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Primary carnitine deficiency cardiomyopa
✍ Wang, Shu-shui; Rao, Jiao; Li, Yu-fen; Zhang, Zhi-wei; Zeng, Guo-hong πŸ“‚ Article πŸ“… 2014 πŸ› Elsevier Science 🌐 English βš– 789 KB
Pharmacological rescue of carnitine tran
✍ Cristina Amat di San Filippo; Marzia Pasquali; Nicola Longo πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 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

Genotype–phenotype correlation in primar
✍ Emily C. Rose; Cristina Amat di San Filippo; Uzochi C. Ndukwe Erlingsson; Orly A πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 327 KB

Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. Lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy. Recently, asymptomatic mothers with primary carni