TY  - JOUR
AU  - Montaño, Adriana M
AU  - Lock-Hock, Ngu
AU  - Steiner, Robert D
AU  - Graham, Brett H
AU  - Szlago, Marina
AU  - Greenstein, Robert
AU  - Pineda, Mercedes
AU  - Gonzalez-Meneses, Antonio
AU  - Çoker, Mahmut
AU  - Bartholomew, Dennis
AU  - Sands, Mark S
AU  - Wang, Raymond
AU  - Giugliani, Roberto
AU  - Macaya, Alfons
AU  - Pastores, Gregory
AU  - Ketko, Anastasia K
AU  - Ezgü, Fatih
AU  - Tanaka, Akemi
AU  - Arash, Laila
AU  - Beck, Michael
AU  - Falk, Rena E
AU  - Bhattacharya, Kaustuv
AU  - Franco, José
AU  - White, Klane K
AU  - Mitchell, Grant A
AU  - Cimbalistiene, Loreta
AU  - Holtz, Max
AU  - Sly, William S
PY  - 2016
DO  - 10.1136/jmedgenet-2015-103322
UR  - http://hdl.handle.net/10668/9860
T2  - Journal of medical genetics
AB  - 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...
LA  - en
KW  - Clinical genetics
KW  - Genetics
KW  - Metabolic disorders
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Glucuronidase
KW  - Humans
KW  - Infant
KW  - Lysosomal Storage Diseases
KW  - Male
KW  - Mucopolysaccharidosis VII
KW  - Phenotype
KW  - Surveys and Questionnaires
KW  - Young Adult
TI  - Clinical course of sly syndrome (mucopolysaccharidosis type VII).
TY  - research article
VL  - 53
ER  -