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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2016
Fag:
Genotype-Phenotype Correlations
Online adgang: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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