Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15

Journal of Medical Genetics

Volumn 45, Issue 11, 2008, Pages 759-764

  Debray, F G ^a   Lambert, M ^a   Lemieux, B ^b   Soucy, J F ^c   Drouin, R ^b   Fenyves, D ^d   Dube J ^a   Maranda, B ^e   Laframboise, R ^e   Mitchell, Grant A ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE SHERBROOKE   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d UNIVERSITÉ DE MONTRÉAL   (Canada)

^e LAVAL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; AMMONIA; ANTICONVULSIVE AGENT; ARGININE; ASPARTATE AMINOTRANSFERASE; BENZOIC ACID; BOTULINUM TOXIN A; FATTY ACID TRANSPORTER; ORNITHINE; OROTIC ACID; SLC25A15 PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID;

ACUTE BRAIN DISEASE; ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANADA; CHILD; CITRULLINEMIA; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHORT ANALYSIS; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DRUG WITHDRAWAL; EPILEPSY; FAILURE TO THRIVE; FOLLOW UP; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; HYPERORNITHINEMIA; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; INTELLECTUAL IMPAIRMENT; LIVER DYSFUNCTION; METABOLIC REGULATION; MONOTHERAPY; NEUROLOGIC DISEASE; PATIENT COMPLIANCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROGNOSIS; PROTEIN RESTRICTION; SPASTICITY;

ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID TRANSPORT SYSTEMS, BASIC; CHILD; CHILD, PRESCHOOL; CITRULLINE; FOUNDER EFFECT; HOMOZYGOTE; HUMANS; HYPERAMMONEMIA; INFANT; MUTATION; ORNITHINE; PHENOTYPE; SYNDROME;

EID: 56049118904     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.059097     Document Type: Article

References (25)

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