Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

Molecular Genetics and Metabolism

Volumn 102, Issue 3, 2011, Pages 343-348

  Mushimoto, Yuichi ^a   Fukuda, Seiji ^a   Hasegawa, Yuki ^a   Kobayashi, Hironori ^a   Purevsuren, Jamiyan ^a   Li, Hong ^a   Taketani, Takeshi ^a   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

Author keywords

Common mutation; Genotype phenotype correlation; Glutaric acidemia type 1 (GA1); Glutaryl CoA dehydrogenase (GCDH); Organic acidemia

Indexed keywords

GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDEMIA; ALLELE; ARTICLE; CAUCASIAN; CHILD; CHINESE; CLINICAL ARTICLE; CORPUS STRIATUM; DISEASE SEVERITY; EARLY DIAGNOSIS; FEMALE; GCDH GENE; GENE; GENETIC HETEROGENEITY; GENOTYPE; GLUTARIC ACIDEMIA TYPE 1; HUMAN; INFANT; JAPANESE; MALE; MULTICENTER STUDY; NERVE DEGENERATION; NEWBORN SCREENING; PHENOTYPE; PRIORITY JOURNAL; SIBLING; TAIWAN;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES, METABOLIC; CHILD, PRESCHOOL; FEMALE; GENE ORDER; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MUTATION; PEDIGREE;

EID: 79851489228     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.11.159     Document Type: Article

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