Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare autosomal recessive neurometabolic inborn error that leads to severe cognitive impairment. It manifests with microcephaly, intractable seizures, and progressive cerebral atrophy. Currently, there is no established treatment for this co...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Sprute, Rosanne, Ardicli, Didem, Oguz, Kader Karli, Malenica-Mandel, Anna, Daimagüler, Hülya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral, Cirak, Sebahattin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6531480/
https://ncbi.nlm.nih.gov/pubmed/31123592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0055-9
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados