The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family

Molecular Genetics and Metabolism

Volumn 81, Issue 4, 2004, Pages 347-351

  Bekri, S ^a   Fossoud, C ^a   Plaza, G ^a   Guenne, A ^a   Salomons, G S ^b   Jakobs, C ^b   Van Obberghen, E ^a  

^a UNIVERSITY HOSPITAL OF NICE   (France)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

4 Hydroxybutyric aciduria; GABA; GHB; SSADH

Indexed keywords

4 AMINOBUTYRIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; ENZYME DEFICIENCY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENETIC DISORDER; GENETIC EPISTASIS; HETEROZYGOTE; HUMAN; LANGUAGE DEVELOPMENT; MOLECULAR GENETICS; PREDICTION; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SPEECH DEVELOPMENT; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; TUNISIA;

ALDEHYDE OXIDOREDUCTASES; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE DELETION; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 1842575790     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.01.012     Document Type: Article

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