Clinical course of sly syndrome (mucopolysaccharidosis type VII)

BACKGROUND: Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal a...

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Detalles Bibliográficos
Publicado en:J Med Genet
Main Authors: Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2016
Assuntos:
Genotype-Phenotype Correlations
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4893087/
https://ncbi.nlm.nih.gov/pubmed/26908836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103322
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