Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

Molecular Genetics and Metabolism

Volumn 94, Issue 4, 2008, Pages 435-442

  Jurecka, Agnieszka ^a   Zikanova, Marie ^b   Tylki Szymanska, Anna ^a   Krijt, Jakub ^b   Bogdanska, Anna ^a   Gradowska, Wanda ^a   Mullerova, Karolina ^b   Sykut Cegielska, Jolanta ^a   Kmoch, Stanislav ^b   Pronicka, Ewa ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

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

Author keywords

Adenylosuccinate lyase; Epileptic encephalopathy; Psychomotor retardation with autistic features; Purine metabolism; SAICAriboside; Succinyladenosine

Indexed keywords

ADENYLOSUCCINATE LYASE;

ADENYLOSUCCINATE LYASE DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INTRACTABLE EPILEPSY; MALE; MOLECULAR GENETICS; MUSCLE HYPOTONIA; NEWBORN PERIOD; NEWBORN SCREENING; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESPIRATORY FAILURE; VISUAL DISORDER;

ADENYLOSUCCINATE LYASE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; POLAND; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 46749148319     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.04.013     Document Type: Article

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