Associated Papers
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
Bordi M et al.
Cell Reports, 2025
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Mastrogiorgio G et al.
Orphanet Journal of Rare Diseases, 2021
Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype.
Macchiaiolo M et al.
Molecular Genetics and Metabolism Reports, 2020
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
The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficiencies.
Palenchar JB et al.
Protein Science : a Publication of the Protein Society, 2003
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Race V et al.
Human Molecular Genetics, 2000
Adenylosuccinate lyase deficiency: from the clinics to molecular biology.
Marie S et al.
Advances in Experimental Medicine and Biology, 2000
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
Marie S et al.
Human Mutation, 1999
Adenylosuccinate lyase deficiency.
Spiegel EK et al.
Molecular Genetics and Metabolism, 0
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