about
Clinical course of sly syndrome (mucopolysaccharidosis type VII)Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issuesMorquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseEffects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type IDose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatmentCNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome)A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VIIA rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cellsNDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis DisordersThe effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade.Lysosomal β-glucuronidase regulates Lyme and rheumatoid arthritis severity.Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).Amyloidosis, synucleinopathy, and prion encephalopathy in a neuropathic lysosomal storage disease: the CNS-biomarker potential of peripheral blood.The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice.12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.New therapeutic targets in rare genetic skeletal diseases.An introduction to proteoglycans and their localizationHaploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.Glycan-based biomarkers for mucopolysaccharidoses.Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.Disease models for the development of therapies for lysosomal storage diseases.Skeletal Dysplasias: Growing Therapy for Growing Bones.Current and emerging management options for patients with Morquio A syndromeLysosomal storage diseases--the horizon expands.Mucopolysaccharidoses.Current and potential therapeutic strategies for mucopolysaccharidoses.Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs.Nanotechnology applied to treatment of mucopolysaccharidoses.Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB.Chondroitin sulfate/dermatan sulfate sulfatases from mammals and bacteria.Cutaneous Manifestations of Mucopolysaccharidoses.Near-Complete Correction of Profound Metabolomic Impairments Corresponding to Functional Benefit in MPS IIIB Mice after IV rAAV9-hNAGLU Gene Delivery.Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-HTreatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration.Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice.Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I.A Unique Case of Cervical Myelopathy in an Adult Patient with Scheie Syndrome.
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Therapy for the mucopolysaccharidoses.
@en
Therapy for the mucopolysaccharidoses.
@nl
type
label
Therapy for the mucopolysaccharidoses.
@en
Therapy for the mucopolysaccharidoses.
@nl
prefLabel
Therapy for the mucopolysaccharidoses.
@en
Therapy for the mucopolysaccharidoses.
@nl
P2860
P356
P1433
P1476
Therapy for the mucopolysaccharidoses.
@en
P2093
Frits A Wijburg
P2860
P304
P356
10.1093/RHEUMATOLOGY/KER396
P478
50 Suppl 5
P577
2011-12-01T00:00:00Z