Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots-Reference-Cited by-同舟云学术

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Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots

Published:2015-01 Issue:1-2 Volume:48 Page:2-7
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Zikanova Marie,Krijt Jakub,Skopova Vaclava,Krijt Matyas,Baresova Veronika,Kmoch Stanislav

Funder

Czech Science Foundation

Charles University in Prague

Ministry of Health of the Czech Republic

BIOCEV — Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference26 articles.

1. Screening of inherited metabolic disorders by tandem mass spectrometry;Chrastina;J Inherit Metab Dis,2007

2. Screening newborns for inborn errors of metabolism by tandem mass spectrometry;Wilcken;N Engl J Med,2003

3. Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism;Adam;Clin Chem,1999

4. Diagnostic approach to adenosine deaminase deficiency;Bartl;J Inherit Metab Dis,2007

5. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines;de Bree;Clin Chim Acta,1986

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1. AICAr to SAICAr ratio can serve as additional marker of AICAr use;Drug Testing and Analysis;2022-11

2. Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation;PLOS ONE;2019-02-28

3. Mass spectrometric analysis of purine de novo biosynthesis intermediates;PLOS ONE;2018-12-10

4. CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation;Molecular Genetics and Metabolism;2016-11

5. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum;Molecular Genetics and Metabolism Reports;2016-09

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