Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations found a deletion of ASNS and a missense variant on t...

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Bibliografiska uppgifter
I publikationen:Mol Genet Metab Rep
Huvudupphovsmän: Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2019
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6838931/
https://ncbi.nlm.nih.gov/pubmed/31720226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100509
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