The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

BACKGROUND: In NANS deficiency, biallelic mutations in the N-acetylneuraminic acid synthase (NANS) gene impair the endogenous synthesis of sialic acid (N-acetylneuraminic acid) leading to accumulation of the precursor, N-acetyl mannosamine (ManNAc), and to a multisystemic disorder with intellectual...

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Detalles Bibliográficos
Autores principales: Tran, Christel, Turolla, Licia, Ballhausen, Diana, Buros, Sandrine Cornaz, Teav, Tony, Gallart-Ayala, Hector, Ivanisevic, Julijana, Faouzi, Mohamed, Lefeber, Dirk J., Ivanovski, Ivan, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Garavelli, Livia, Superti-Furga, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251509/
https://www.ncbi.nlm.nih.gov/pubmed/34258226
http://dx.doi.org/10.1016/j.ymgmr.2021.100777

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