Characterization of a Novel Variant in Siblings with Asparagine Synthetase Deficiency

Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. ASD typically presents congenitally with microcephaly and severe, often medically refractory, epilepsy. Development is generall...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Sacharow, Stephanie J., Dudenhausen, Elizabeth E., Lomelino, Carrie L., Rodan, Lance, El Achkar, Christelle Moufawad, Olson, Heather E., Genetti, Casie A, Agrawal, Pankaj B., McKenna, Robert, Kilberg, Michael S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5832599/
https://ncbi.nlm.nih.gov/pubmed/29279279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.12.433
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