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

Author:

Radha Rama Devi Akella,Naushad Shaik MohammadORCID

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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