6533b838fe1ef96bd12a3f01

RESEARCH PRODUCT

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Fatih Süheyl EzgüKaustuv BhattacharyaRaymond Y. WangRoberto GiuglianiMax HoltzBrett H. GrahamMahmut ÇOkerRena E. FalkJosé Francisco Da Silva FrancoRobert D. SteinerAlfons MacayaRobert M. GreensteinWilliam S. SlyGrant A. MitchellNgu Lock-hockGregory M. PastoresMercedes PinedaLoreta CimbalistieneLaila ArashKlane K. WhiteAntonio González-menesesAnastasia K. KetkoMichael BeckMarina SzlagoAdriana M. MontañoDennis BartholomewAkemi TanakaMark S. Sands

subject

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentMucopolysaccharidosisSly syndromeHepatosplenomegalyMetabolic disordersMucopolysaccharidosis VIIMedical and Health Sciences03 medical and health sciencesYoung Adult0302 clinical medicineHydrops fetalisSurveys and QuestionnairesmedicineGeneticsHumansMedical history1506Clinical geneticsFamily historyPreschoolChildGenetics (clinical)GlucuronidaseGenetics & Hereditybusiness.industryGenotype-Phenotype CorrelationsMucopolysaccharidosis VIIInfantEnzyme replacement therapyBiological Sciencesmedicine.diseaseLysosomal Storage Diseases030104 developmental biologyPhenotypeClinical genetics Genetics Metabolic disordersChild PreschoolFemalemedicine.symptombusiness030217 neurology & neurosurgeryMPS ; lysosomal storage disease ; β-glucuronidase

description

WOS: 000377110800007

10.1136/jmedgenet-2015-103322https://hdl.handle.net/10668/9860