First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorph...

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Detalles Bibliográficos
Autores principales: Wamelink, Mirjam M. C., Ramos, Ruben J. J. F., van den Elzen, Annette P. M., Ruijter, George J. G., Bonte, Ramon, Diogo, Luisa, Garcia, Paula, Neves, Nelson, Nota, Benjamin, Haschemi, Arvand, Tavares de Almeida, Isabel, Salomons, Gajja S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551550/
https://www.ncbi.nlm.nih.gov/pubmed/25647543
http://dx.doi.org/10.1007/s10545-014-9809-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551550/
https://www.ncbi.nlm.nih.gov/pubmed/25647543
http://dx.doi.org/10.1007/s10545-014-9809-1

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