A novel missense mutation in a neonate with nonketotic hyperglycinemia

Pediatric Neurology

Volumn 43, Issue 5, 2010, Pages 363-367

  Meyer, Sascha ^a   Acquaviva, Cécile ^b   Shamdeen, Mohammed Ghiath ^a   Haas, Dorothea ^c   Vianey Saban, Christine ^b  

^a SAARLAND UNIVERSITY   (Germany)

^b INSERM   (France)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE DEHYDROGENASE (DECARBOXYLATING); PYRIDOXINE;

AMINO ACID SUBSTITUTION; APGAR SCORE; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL CHEMISTRY; ELECTROENCEPHALOGRAPHY; EXON; FEMALE; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPERGLYCINEMIA; LETHARGY; LUMBAR PUNCTURE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL; PROGNOSIS; RESPIRATORY FAILURE; SEIZURE; SEPSIS; TENDON REFLEX;

AMINO ACIDS; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); HUMANS; HYPERGLYCINEMIA, NONKETOTIC; INFANT, NEWBORN; MUTATION, MISSENSE;

EID: 77957724215     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.05.025     Document Type: Article

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