An OTC deficiency 'phenocopy' in association with Klinefelter syndrome.

Journal of inherited metabolic disease

Volumn 30, Issue 1, 2007, Pages 101-

  Swarts, L ^a   Leisegang, F ^a   Owen, E P ^a   Henderson, H E ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CASE REPORT; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; HUMAN; INFANT; KARYOTYPING; KLINEFELTER SYNDROME; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; X CHROMOSOME; X CHROMOSOME INACTIVATION;

CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; KARYOTYPING; KLINEFELTER SYNDROME; MALE; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PHENOTYPE; X CHROMOSOME INACTIVATION;

EID: 33847794284     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0489-3     Document Type: Article

References (0)