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About 46 results

ALLMedicine™ Adenylosuccinate Lyase Deficiency Center

Research & Reviews  23 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 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...

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 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,|

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 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...

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis...
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...

Adenylosuccinate lyase deficiency.
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...

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Clinicaltrials.gov  23 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 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...

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 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,|

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 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...

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis...
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...

Adenylosuccinate lyase deficiency.
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...

see more →