ALLMedicine™ Adenylosuccinate Lyase Deficiency Center
Research & Reviews 23 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7919308
Orphanet Journal of Rare Diseases; Mastrogiorgio G, Macchiaiolo M et. al.
Mar 2nd, 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...
https://doi.org/10.1016/j.clineuro.2021.106506
Clinical Neurology and Neurosurgery; Cakmak Celik F, Ozlu MM et. al.
Jan 26th, 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,|
https://doi.org/10.1016/j.ejmg.2020.104061
European Journal of Medical Genetics; Andelman-Gur MM, Saitsu H et. al.
Sep 5th, 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...
https://doi.org/10.1016/j.clinbiochem.2014.10.004
Clinical Biochemistry; Zikanova M, Krijt J et. al.
Dec 2nd, 2014 - Stable isotope dilution coupled with liquid chromatography-tandem mass spectrometry (LC-MS/MS) is the sensitive method for screening for various inherited metabolic disorders using dried blood spots (DBSs). We present a method for LC-MS/MS determi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341013
Journal of Inherited Metabolic Disease; Jurecka A, Zikanova M et. al.
Aug 12th, 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...
Clinicaltrials.gov 23 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7919308
Orphanet Journal of Rare Diseases; Mastrogiorgio G, Macchiaiolo M et. al.
Mar 2nd, 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...
https://doi.org/10.1016/j.clineuro.2021.106506
Clinical Neurology and Neurosurgery; Cakmak Celik F, Ozlu MM et. al.
Jan 26th, 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,|
https://doi.org/10.1016/j.ejmg.2020.104061
European Journal of Medical Genetics; Andelman-Gur MM, Saitsu H et. al.
Sep 5th, 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...
https://doi.org/10.1016/j.clinbiochem.2014.10.004
Clinical Biochemistry; Zikanova M, Krijt J et. al.
Dec 2nd, 2014 - Stable isotope dilution coupled with liquid chromatography-tandem mass spectrometry (LC-MS/MS) is the sensitive method for screening for various inherited metabolic disorders using dried blood spots (DBSs). We present a method for LC-MS/MS determi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341013
Journal of Inherited Metabolic Disease; Jurecka A, Zikanova M et. al.
Aug 12th, 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...