Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D

Tohoku Journal of Experimental Medicine

Volumn 205, Issue 4, 2005, Pages 335-342

  Ohkubo, Yumiko ^c   Ueta, Akihito ^c   Ito, Tetsuya ^c   Sumi, Satoshi ^c   Yamada, Mari ^a   Ozawa, Katsuko ^b   Togari, Hajime ^c  

^a Higashi Municipal Hospital of Nagoya   (Japan)

^b Mainichi Clinic   (Japan)

^c NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

Author keywords

Gyrate atrophy; Hyperornithinemia; Ornithine aminotransferase; Vitamin B6

Indexed keywords

ORNITHINE OXOACID AMINOTRANSFERASE; PYRIDOXINE; ORNITHINE;

ADULT; ALLELE; AMINO ACID ANALYSIS; ARTICLE; CASE REPORT; CATARACT; CHOROID GYRATE ATROPHY; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; DRUG DOSE REGIMEN; DRUG EFFICACY; DRUG SAFETY; EXON; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; LEUKOCYTE; MALE; ORNITHINE OXOACID AMINOTRANSFERASE DEFICIENCY; PHENOTYPE; RETINA GYRATE ATROPHY; VISUAL IMPAIRMENT; WILD TYPE; AMINO ACID SUBSTITUTION; BLOOD; CHILD; FEMALE; GENETICS; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PROTEIN SECONDARY STRUCTURE; STRUCTURE ACTIVITY RELATION;

ADULT; AMINO ACID SUBSTITUTION; CHILD; FEMALE; GYRATE ATROPHY; HUMANS; MALE; MUTATION; ORNITHINE; ORNITHINE-OXO-ACID TRANSAMINASE; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; STRUCTURE-ACTIVITY RELATIONSHIP; VITAMIN B 6;

EID: 17844410686     PISSN: 00408727     EISSN: None     Source Type: Journal    
DOI: 10.1620/tjem.205.335     Document Type: Article

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