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The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant

Background: ALG13-CDG belongs to the congenital disorders of glycosylation (CDG), which is an expanding group of multisystemic metabolic disorders caused by the N-linked, O-linked oligosaccharides, shared substrates, glycophosphatidylinositol (GPI) anchors, and dolichols pathways with high genetic h...

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Detalhes bibliográficos
Publicado no:Children (Basel)
Main Authors: Paprocka, Justyna, Jezela-Stanek, Aleksandra, Boguszewicz, Łukasz, Sokół, Maria, Lipiński, Patryk, Jamroz, Ewa, Emich-Widera, Ewa, Tylki-Szymańska, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8004727/
https://ncbi.nlm.nih.gov/pubmed/33807002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/children8030251
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