Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oralS-adenosyl-l-methionine as a treatment method-Reference-Cited by-同舟云学术

Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oralS-adenosyl-l-methionine as a treatment method

Published:2013-08-13 Issue:11 Volume:55 Page:1060-1064
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

van Werkhoven Michiel A¹,Duley John A²,McGown Ivan³,Munce Teresa³,Freeman Jeremy L⁴,Pitt James J¹

Affiliation:

1. Victorian Clinical Genetics Services; Murdoch Childrens Research Institute; The Royal Children's Hospital; Melbourne; Vic.; Australia

2. School of Pharmacy; The University of Queensland and Mater Medical Research Institute; Brisbane; Qld; Australia

3. Mater Health Services; Brisbane; Qld; Australia

4. Department of Neurology and Murdoch Childrens Research Institute; The Royal Children's Hospital; Melbourne; Vic.; Australia

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/dmcn.12244/fullpdf

Reference23 articles.

1. Adenylosuccinate lyase deficiency;Spiegel;Mol Genet Metab,2006

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

3. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1->q13.2;Fon;Cytogenet Cell Genet,1993

4. Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity;Laikind;Anal Biochem,1986

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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. A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing;Italian Journal of Pediatrics;2017-08-02

3. Disorders of Purine and Pyrimidine Metabolism;Inborn Metabolic Diseases;2016

4. Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots;Clinical Biochemistry;2015-01

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