Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases-Reference-Cited by-同舟云学术

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Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases

Published:2010-11 Issue:5 Volume:43 Page:351-354
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

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

Publisher

Elsevier BV

Subject

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

Reference13 articles.

1. Adenylosuccinate lyase deficiency: first British case;Marinaki;Nucleosides Nucleotides Nucleic Acids,2004

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

3. Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency;Marie;Am J Hum Genet,2002

4. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency;Race;Hum Mol Genet,2000

5. When to investigate for purine and pyrimidine disorders: introduction and review of clinical and laboratory indications;Simmonds;J Inherit Metab Dis,1997

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1. 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

2. Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report;World Journal of Clinical Cases;2022-10-26

3. Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis;Molecular Genetics and Metabolism;2022-07

4. Disorders of Purine and Pyrimidine Metabolism;Inborn Metabolic Diseases;2022

5. Taste compounds, affecting factors, and methods used to evaluate chicken soup: A review;Food Science & Nutrition;2021-08-10

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