Diagnosis and high incidence of hyperornithinemiahyperammonemia- homocitrullinemia (HHH) syndrome in northern Saskatchewan

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Sokoro, Abdulrazaq A H ^b   Lepage, Joyce ^a   Antonishyn, Nick ^a   McDonald, Ryan ^a   Rockman Greenberg, Cheryl ^b   Irvine, James ^c   Lehotay, Denis C ^a  

^a Saskatchewan Disease Control Laboratory   (Canada)

^b UNIVERSITY OF MANITOBA   (Canada)

^c UNIVERSITY OF SASKATCHEWAN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID TRANSPORTER; BIOLOGICAL MARKER; ORNITHINE; SLC25A15 PROTEIN, HUMAN;

ARTICLE; BLOOD; CANADA; DRIED BLOOD SPOT TESTING; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERAMMONEMIA; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; INCIDENCE; METHODOLOGY; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; TANDEM MASS SPECTROMETRY; TIME; UREA CYCLE DISORDER; DEFICIENCY; PROCEDURES; UREA CYCLE DISORDERS, INBORN;

AMINO ACID TRANSPORT SYSTEMS, BASIC; BIOLOGICAL MARKERS; DNA MUTATIONAL ANALYSIS; DRIED BLOOD SPOT TESTING; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERAMMONEMIA; INCIDENCE; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; ORNITHINE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; PROSPECTIVE STUDIES; RETROSPECTIVE STUDIES; SASKATCHEWAN; TANDEM MASS SPECTROMETRY; TIME FACTORS; UREA CYCLE DISORDERS, INBORN;

EID: 84897923367     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9148-9     Document Type: Article

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