Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases-Reference-Cited by-同舟云学术

Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases

Published:2019-07 Issue: Volume:704 Page:97-102
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Radha Rama Devi Akella,Naushad Shaik Mohammad^ORCID

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