Disease: Adenylosuccinate lyase deficiency
- A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology
- A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing
- A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing
- Adenylosuccinate lyase deficiency affects neurobehavior via perturbations to tyramine signaling in Caenorhabditis elegans
- ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy
- Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy
- Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis
- Case 3: The Hypothermic Newborn
- Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the <em>ADSL</em> gene: A case report
- Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report
- Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
- Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis
- Disorders of purine biosynthesis metabolism
- Electroclinical features and phenotypic differences in Adenylosuccinate lyase deficiency: long term follow-up of seven patients from four families and appraisal of the literature
- Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature
- Identification of <em>LAMTOR1</em>-regulated metabolites using ultra-performance liquid chromatography coupled with time-of-flight mass spectrometry in malignant transformation of liver inflammation
- Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
- MRI findings of hypomyelination in adenylosuccinate lyase deficiency
- Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome
- Pathway-specific effects of ADSL deficiency on neurodevelopment
- Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features
- The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation
- Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype