title: Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.
mesh_terms: D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D015997:Neonatal Screening; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: C116917:acylcarnitine; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine