Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.

Journal of inherited metabolic disease

Volumn 30, Issue 6, 2007, Pages 981-

  Mak, C M ^a   Siu, T S ^a   Lam, C W ^a   Chan, G C F ^a   Poon, G W K ^a   Wong, K Y ^a   Low, L C K ^a   Tang, N L ^a   Li, S K ^a   Lau, K Y ^a   Kwong, N S ^a   Tam, S ^a  

^a QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; GLUTAMINE; ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CASE REPORT; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; HUMAN; MALE; METABOLIC ENCEPHALOPATHY; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; TREATMENT OUTCOME;

AMMONIA; BRAIN DISEASES, METABOLIC; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GLUTAMINE; HUMANS; MALE; MUTATION, MISSENSE; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; TREATMENT OUTCOME;

EID: 38449094452     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0692-x     Document Type: Article

References (0)