Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation
Open Access
- 20 March 2013
- journal article
- letter
- Published by Hindawi Limited in Human Mutation
- Vol. 34 (4), 655
- https://doi.org/10.1002/humu.22286
Abstract
Click on the article title to read more.Keywords
This publication has 5 references indexed in Scilit:
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- Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspectsGenetics in Medicine, 2010
- A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patientsHuman Mutation, 2002
- Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine DeficiencyHuman Molecular Genetics, 1999