Associated Papers
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2
Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase.
Van Laer B et al.
Scientific Reports, 2018
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
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Holder-Espinasse M et al.
Journal of Medical Genetics, 2002
Adenylosuccinate lyase deficiency.
Spiegel EK et al.
Molecular Genetics and Metabolism, 0
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