Attenuated adenylosuccinate lyase deficiency: A report of one case and a review of the literature

Neuropediatrics

Volumn 45, Issue 1, 2014, Pages 50-55

  Jurecka, Agnieszka ^a,b   Zikanova, Marie ^c   Jurkiewicz, Elzbieta ^a   Tylki Szymańska, Anna ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b UNIVERSITY OF GDA SK   (Poland)

^c Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

adenylosuccinate lyase deficiency; genotype phenotype analysis; ketogenic diet

Indexed keywords

ADENYLOSUCCINATE LYASE; CARBAMAZEPINE; ETIRACETAM; LAMOTRIGINE; PURINE; RIBOSE; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLECARBOXAMIDE; UNCLASSIFIED DRUG;

ADENYLOSUCCINATE LYASE DEFICIENCY; ARTICLE; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CASE REPORT; CHILD; COMMUNICATION SKILL; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DIET SUPPLEMENTATION; DISEASE CONTROL; ELECTROENCEPHALOGRAPHY; FEMALE; FOLLOW UP; GENETIC ANALYSIS; HETEROZYGOSITY; HIPPOTHERAPY; HUMAN; HYDROTHERAPY; KETOGENIC DIET; KINDERGARTEN; LATERAL BRAIN VENTRICLE; MISSENSE MUTATION; MOTOR DEVELOPMENT; MUSIC THERAPY; NUCLEAR MAGNETIC RESONANCE IMAGING; PET THERAPY; PHENOTYPE; PHYSIOTHERAPY; PRIORITY JOURNAL; PURINE METABOLISM; RARE DISEASE; SCHOOL CHILD; SPEECH THERAPY; TONIC CLONIC SEIZURE; WALKING;

ADENYLOSUCCINATE LYASE; CHILD; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HUMANS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 84893645406     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0033-1337335     Document Type: Article

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