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About 30 results

ALLMedicine™ Adenylosuccinate Lyase Deficiency Center

Research & Reviews  10 results

Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency
https://clinicaltrials.gov/ct2/show/NCT03776656

Aug 31st, 2021 - Adenylosuccinate lyase deficiency (ADSL) is a rare disorder of purine metabolism whose symptoms are mental retardation, autistic disorders, epilepsy, related to the accumulation of succinylpurines: succinylaminoimidazole carboxamide riboside (SAIC...

Clinical and molecular characterization of patients with adenylosuccinate lyase deficie...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7919308
Orphanet Journal of Rare Diseases; Mastrogiorgio G, Macchiaiolo M et. al.

Mar 3rd, 2021 - Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability. Here we provide an updated clinical profi...

A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation ...
https://doi.org/10.1016/j.clineuro.2021.106506
Clinical Neurology and Neurosurgery; Cakmak Celik F, Ozlu MM et. al.

Jan 27th, 2021 - A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.|2021|Cakmak Celik F,Ozlu MM,Ceylaner S,|deficiency,genetics,diagnostic imaging,physiopathology,diagnosis,genetics,physiopat...

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
https://doi.org/10.1016/j.ejmg.2020.104061
European Journal of Medical Genetics; Andelman-Gur MM, Saitsu H et. al.

Sep 6th, 2020 - Adenylosuccinate lyase deficiency is a rare autosomal recessive disorder of purine metabolism. The disorder manifests with developmental delay, postnatal microcephaly, hypotonia, involuntary movements, epileptic seizures, ataxia and autistic featu...

Adenylosuccinate lyase deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341013
Journal of Inherited Metabolic Disease; Jurecka A, Zikanova M et. al.

Aug 13th, 2014 - Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. Biochemically this defect manifests by...

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Clinicaltrials.gov  1 results

Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency
https://clinicaltrials.gov/ct2/show/NCT03776656

Aug 31st, 2021 - Adenylosuccinate lyase deficiency (ADSL) is a rare disorder of purine metabolism whose symptoms are mental retardation, autistic disorders, epilepsy, related to the accumulation of succinylpurines: succinylaminoimidazole carboxamide riboside (SAIC...

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News  1 results

The Diagnostic Approach to HCC
https://www.onclive.com/view/the-diagnostic-approach-to-hcc

Apr 2nd, 2021 - Transcript:Ghassan K. Abou-Alfa, MD: I’d like to go back to the point about the disease. I’ll start by asking our colleagues in oncology. Katie, I’ll start with you. So you get the call. You have a patient with HCC who has a tumor that may be HCC ...

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