Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
- 1 January 2010
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 12 (1), 19-24
- https://doi.org/10.1097/gim.0b013e3181c5e6f7
Abstract
No abstract availableThis publication has 28 references indexed in Scilit:
- Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene DeletionsClinical Chemistry, 2008
- Expanded newborn screening identifies maternal primary carnitine deficiencyMolecular Genetics and Metabolism, 2007
- Pharmacological rescue of carnitine transport in primary carnitine deficiencyHuman Mutation, 2006
- Disorders of carnitine transport and the carnitine cycleSeminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2006
- Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in theSLC22A5 geneHuman Mutation, 2005
- Carnitine Deficiency Disorders in ChildrenAnnals of the New York Academy of Sciences, 2004
- Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.Journal of Neurology, Neurosurgery & Psychiatry, 1995
- Pregnancy-related changes of carnitine and acylcarnitine concentrations of plasma and erythrocytesjpme, 1995
- Transport of carnitine into cells in hereditary carnitine deficiencyJournal of Inherited Metabolic Disease, 1989
- Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and FibroblastsThe New England Journal of Medicine, 1988