Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family

Journal of the Neurological Sciences

Volumn 218, Issue 1-2, 2004, Pages 53-58

  Korman, Stanley H ^a   Kanazawa, Naomi ^b   Abu Libdeh, Bassam ^c   Gutman, Alisa ^a   Tsujino, Seiichi ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c Makassed Islamic Hospital   (Israel)

Author keywords

HHH syndrome; Homocitrullinuria; Hyperammonemia; Hyperornithinemia; Mitochondrial dysfunction; Mutation; Ornithine transporter; ORNT1; Polymorphism; SLC25A15

Indexed keywords

ALANINE; AMMONIA; GLUTARIC ACID; HOMOCITRULLINE; LACTIC ACID; LIVER ENZYME; ORNITHINE; PYRUVIC ACID;

ADOLESCENT; AMINO ACID ANALYSIS; ARTICLE; BIOCHEMISTRY; CASE REPORT; CELL ULTRASTRUCTURE; CITRIC ACID CYCLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ASSAY; EXON; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HOMOCITRULLINURIA; HOMOZYGOTE; HUMAN; HYPERAMMONEMIA; HYPERORNITHINEMIA; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRILLINURIA SYNDROME; LABORATORY TEST; LACTIC ACIDEMIA; LEUKOCYTE; LIVER DISEASE; LIVER MITOCHONDRION; MALE; MITOCHONDRION; MUSCLE MITOCHONDRION; NEUROLOGIC DISEASE; PALESTINE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEIZURE; SLC25A15 GENE; STOP CODON; SYNDROME; URINALYSIS; URINARY EXCRETION;

EID: 0842305094     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2003.10.017     Document Type: Article

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