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Paper Details

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Mol Genet Metab
19
2017
CTD, Carnitine, Carnitine transporter, Carnitine transporter defect, Maternal, SLC22A5 gene, acyl CoA, cardiomyopathy, carnitine, carnitine transporter, carnitine transporter defect, cobalamin C, cobalamin C deficiency, dried, encephalopathy, fibroblast, glutaric aciduria, type 1, maternal disorders, metabolic disorders, newborn, systemic primary carnitine deficiency, weakness
Author NameAffiliation
Gregory M EnnsLucile Packard Children's Hospital, Stanford University Medical Center
Henry J LinHarbor-university of california los angeles Medical Center and Los Angeles Biomedical Research Institute
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Datasets

Release 1.2