Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference23 articles.
1. Asparagine synthetase deficiency: new inborn errors of metabolism;Alfadhel;JIMD Rep.,2015
2. Coagulopathic side effect of L-asparaginase on fibrinogen level in childhood acute lymphoblastic leukemia during induction phase;Alqasim;Hematol. Oncol. Stem Cell Ther.,2018
3. Worsening of seizures after asparagine supplementation in a child with asparagine synthetase deficiency;Alrifai;Pediatr. Neurol.,2016
4. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay;Ben-Salem;Metab. Brain Dis.,2014
5. An update on serine deficiency disorders;Crabben;J. Inherit. Metab. Dis.,2013
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1. Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders;Molecular Neurobiology;2024-01-05
2. Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification;2023-11-02
3. Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis;Frontiers in Pediatrics;2023-10-13
4. Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells;Nutrients;2023-04-18
5. Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines;JIMD Reports;2023-01-05
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