Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference10 articles.
1. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy;Ruzzo;Neuron,2013
2. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay;Ben-Salem;Metab Brain Dis,2015
3. Asparagine synthetase deficiency: new inborn errors of metabolism;Alfadhel;JIMD Rep,2015
4. Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance;Haberle;Orphanet J Rare Dis,2012
5. Amino acid synthesis deficiencies;de Koning;Handb Clin Neurol,2013
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1. Advances in human glutamine-hydrolyzing synthetases and their therapeutic potential;Frontiers in Chemical Biology;2024-06-06
2. Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification;2023-11-02
3. Aspartic Acid in Health and Disease;Nutrients;2023-09-17
4. Amino acid metabolism in health and disease;Signal Transduction and Targeted Therapy;2023-09-13
5. Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant;Clinical Neurology and Neurosurgery;2023-07
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