Associated Papers
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N et al.
Jama Network Open, 2021
34251446 (PubMed )
Supplement: jamanetwopen-e2114155-s001.pdf
Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase.
Van Laer B et al.
Scientific Reports, 2018
Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.
Mao X et al.
Scientific Reports, 2017
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Donti TR et al.
Molecular Genetics and Metabolism Reports, 2016
27504266 (PubMed )
Supplement: mmc1.pdf
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 S et al.
American Journal of Human Genetics, 2002
Adenylosuccinate lyase deficiency.
Spiegel EK et al.
Molecular Genetics and Metabolism, 0
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