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ALLMedicine™ Adenylosuccinate Lyase Deficiency Center

Research & Reviews  9 results

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,|

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...

Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young ...
https://doi.org/10.1016/j.braindev.2013.08.013
Brain & Development; Chen BC, Balasubramaniam S et. al.

Sep 24th, 2013 - Lesch-Nyhan disease (LND) is a rare X-linked recessive neurogenetic disorder caused by deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) which is responsible for recycling purine bases into purine nu...

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