Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

We report clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Patient 1 exhibited a unique constellation of clinical features including marked hydrocephalus, spondyloepimetaphyseal dysplasia (SEMD), and t...

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Detalles Bibliográficos
Autores principales: Masunaga, Yohei, Nishimura, Gen, Takahashi, Koji, Hishiyama, Tomiyuki, Imamura, Masatoshi, Kashimada, Kenichi, Kadoya, Machiko, Wada, Yoshinao, Okamoto, Nobuhiko, Oba, Daiju, Ohashi, Hirofumi, Ikeno, Mitsuru, Sakamoto, Yuko, Fukami, Maki, Saitsu, Hirotomo, Ogata, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556533/
https://www.ncbi.nlm.nih.gov/pubmed/36224347
http://dx.doi.org/10.1038/s41598-022-21751-x

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