Amino acid synthesis deficiencies
Author:
Funder
University Medical Center Groningen (UMCG)
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0063-1/fulltext.html
Reference46 articles.
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2. Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al Othaim A, Al Rasheed S, Assiri H, Alqahtani AA, Alaamery M, Rolfs A, Eyaid W (2015) Asparagine Synthetase deficiency: new inborn errors of metabolism. JIMD Rep 22:11–11
3. Alrifai MT, Alfadhel M (2016) Worsening of seizures after asparagine supplementation in a child with asparagine synthetase deficiency. Pediatr Neurol 58:98–100
4. Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D (2000) Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet 9:2853–2858
5. Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L (2015) Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis 30:687–694
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