A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency

Brain and Development

Volumn 34, Issue 2, 2012, Pages 107-112

  Yamakawa, Yoko ^a   Nakazawa, Tomoyuki ^a   Ishida, Asuka ^a   Saito, Nobutomo ^a   Komatsu, Mitsutaka ^a   Matsubara, Tomoyo ^a   Obinata, Kaoru ^a   Hirose, Shinichi ^b   Okumura, Akihisa ^a   Shimizu, Toshiaki ^a  

^a JUNTENDO UNIVERSITY   (Japan)

^b FUKUOKA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYBUTYRIC ACID; ALDH5A1 PROTEIN; MIDAZOLAM; PHENOBARBITAL; PROTEIN; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; UNCLASSIFIED DRUG;

ANTICONVULSANT THERAPY; ARTICLE; ASPIRATION PNEUMONIA; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CASE REPORT; CAUDATE NUCLEUS; CLONIC SEIZURE; CONTINUOUS INFUSION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DRUG MEGADOSE; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; GASTROESOPHAGEAL REFLUX; GENE MUTATION; HETEROZYGOSITY; HUMAN; INFANT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PSYCHOMOTOR DEVELOPMENT; PUTAMEN; SLOW BRAIN WAVE; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; UNCONSCIOUSNESS;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; ELECTROENCEPHALOGRAPHY; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; PSYCHOMOTOR PERFORMANCE; REGRESSION (PSYCHOLOGY); SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 84855572562     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.05.003     Document Type: Article

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