article_metadata: Michael Jakoby 4th Amruta Jaju Aundrea Marsh Andrew Wilber
article_metadata: 10.1177/23247096211019543
article_metadata: J Investig Med High Impact Case Rep
article_metadata: 2021 Jan-Dec;9:23247096211019543.
article_metadata: slc22a5 mutation maternal primary carnitine deficiency
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/34032155/
article_metadata: Hyperammonemia / diagnosis Hyperammonemia / genetics
article_metadata: Hyperammonemia / diagnosis Hyperammonemia / genetics Case Reports Adult Cardiomyopathies Carnitine / deficiency Female Humans Infant, Newborn Muscular Diseases Mutation Solute Carrier Family 22 Member 5 / genetics SLC22A5 protein, human Solute Carrier Family 22 Member 5 Carnitine Systemic carnitine deficiency
article_metadata: PMC8155745
article_metadata: 34032155
article_metadata: Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation
article_metadata: 2021