Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles

Congenital disorders of glycosylation (CDG), inherited metabolic diseases caused by defects in glycosylation, are characterized by a high frequency of intellectual disability (ID) and various clinical manifestations. Two siblings with ID, dysmorphic features, and epilepsy were examined using mass sp...

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Detalles Bibliográficos
Autores principales: Okamoto, Nobuhiko, Ohto, Tatsuyuki, Enokizono, Takashi, Wada, Yoshinao, Kohmoto, Tomohiro, Imoto, Issei, Haga, Yoshimi, Seino, Junichi, Suzuki, Tadashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618856/
https://www.ncbi.nlm.nih.gov/pubmed/34831340
http://dx.doi.org/10.3390/cells10113117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618856/
https://www.ncbi.nlm.nih.gov/pubmed/34831340
http://dx.doi.org/10.3390/cells10113117

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