Associated Papers
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Mastrogiorgio G et al.
Orphanet Journal of Rare Diseases, 2021
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S7
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
Select a paper to view details