Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: First three cases

Pediatric Neurology

Volumn 43, Issue 5, 2010, Pages 351-354

  Lundy, Claire T ^a   Jungbluth, Heinz ^a,c   Pohl, Keith R E ^a   Siddiqui, Ata ^b   Marinaki, Anthony M ^b   Mundy, Helen ^a   Champion, Michael P ^a  

^a EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ETIRACETAM; MIDAZOLAM; PARALDEHYDE; PHENOBARBITAL; PHENYTOIN; RIBOSE; TOPIRAMATE;

ADENYLOSUCCINATE LYASE DEFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; INFANT; MALE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SPEECH DISORDER; UNITED KINGDOM; URINALYSIS; VISUAL IMPAIRMENT;

ADENYLOSUCCINATE LYASE; BRAIN; CHILD, PRESCHOOL; FEMALE; GREAT BRITAIN; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS;

EID: 77957748296     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.06.007     Document Type: Article

References (13)

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