Response to Chen et al.: 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), 656
- https://doi.org/10.1002/humu.22285
Abstract
No abstract availableFunding Information
- National Institutes of Health (R01 DK 53824)
This publication has 4 references indexed in Scilit:
- Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype CorrelationHuman Mutation, 2013
- Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac eventsJournal of Inherited Metabolic Disease, 2012
- Genotype-phenotype correlation in primary carnitine deficiencyHuman Mutation, 2011
- Expanded newborn screening identifies maternal primary carnitine deficiencyMolecular Genetics and Metabolism, 2007