1.
J Pediatr
; 141(5): 734-6, 2002 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12410208
RESUMO
We describe a lethal neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency with compound heterozygosity for 2 truncation mutations (Q413fs and 109AGC --> GCAGC). A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H).