Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly-Reference-Cited by-同舟云学术

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly

Published:2000-09 Issue:6 Volume:22 Page:383-386
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Nassogne Marie-Cécile,Henrot Brigitte,Aubert Geneviève,Bonnier Christine,Marie Sandrine,Saint-Martin Christine,Van den Berghe Georges,Sébire Guillaume,Vincent Marie-Françoise

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency;Van den Berghe;J Inherit Metab Dis,1997

2. An infantile autistic syndrome characterized by the presence of succinylpurines in body fluids;Jaeken;Lancet,1984

3. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features;Stone;Nat Genet,1992

4. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence;Marie;Hum Mutat,1999

5. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis;Jaeken;Eur J Pediatr,1988

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1. Integrated Functions of Cardiac Energetics, Mechanics, and Purine Nucleotide Metabolism;Comprehensive Physiology;2023-12-29

2. Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature;Epilepsia Open;2023-11-27

3. Preliminary Study of Local Gene Network in Epilepsy;The Fifth International Conference on Biological Information and Biomedical Engineering;2021-07-20

4. Vagus Nerve Stimulator in a Patient with Adenylosuccinate Lyase Deficiency: a Case Report;Journal of Pediatric Epilepsy;2016-02-24

5. Adenylosuccinate lyase deficiency;Journal of Inherited Metabolic Disease;2014-08-12