Associated Papers
Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.
Toriyama K et al.
The Journal of Pathology, 2025
40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0004-TableS4.xlsx › PDAC-057-ip
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G et al.
Epilepsia Open, 2024
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
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Zulfiqar M et al.
Journal of Magnetic Resonance Imaging : Jmri, 2013
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
Baresova V et al.
Human Molecular Genetics, 2012
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
Zikanova M et al.
Human Mutation, 2010
Adenylosuccinate lyase deficiency.
Spiegel EK et al.
Molecular Genetics and Metabolism, 0
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