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