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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Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: BMJ Publishing Group 2016
Teme:
Genotype-Phenotype Correlations
Online dostop: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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