Adenylosuccinase deficiency: Possibly underdiagnosed encephalopathy with variable clinical features

European Journal of Paediatric Neurology

Volumn 3, Issue 1, 1999, Pages 3-6

  Köhler, Martin ^a   Assmann, Birgit ^a   Bräutigam, Christa ^a   Storm, Wolfgang ^b   Marie, Sandrine ^c   Vincent, M Françoise ^c   Van den Berghe, Georges ^c   Simmonds, H Anne ^d   Hoffmann, Georg F ^a  

^a University Children's Hospital   (Germany)

^b St Vincenz Hospital   (Germany)

^c International Institute of Cellular and Molecular Pathology   (Belgium)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Adenylosuccinase; Burst suppression pattern; Purine metabolism; Succinylpurines

Indexed keywords

5 AMINO 4 IMIDAZOLECARBOXAMIDE RIBOSIDE; ADENOSINE DERIVATIVE; ADENYLOSUCCINATE LYASE;

ARTICLE; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BLOOD LEVEL; BRAIN DISEASE; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CLINICAL FEATURE; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PURINE SYNTHESIS; SEIZURE; URINE LEVEL;

EID: 0032962263     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.1999.0172     Document Type: Article

References (17)

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