Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
about
Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblastsCloning, sequencing, and expression of cDNA for human beta-glucuronidaseMurine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiencyHuman beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassayClinical course of sly syndrome (mucopolysaccharidosis type VII)Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenesMolecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VIIEvaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VIITherapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs.Induced pluripotent stem cells derived from mouse models of lysosomal storage disordersAge-related functional and histopathological changes of the ear in the MPS I mouse.Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage diseaseThe effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade.Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy.The mucopolysaccharidoses.Genetic heterogeneity within the chondroitinsulphaturias.Correction of murine mucopolysaccharidosis VII by a human beta-glucuronidase transgenePhenotypic expression in mucopolysaccharidosis VII.Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancyEncapsulation for somatic gene therapy.Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression.Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouseTransplantation and magnetic resonance imaging of canine neural progenitor cell grafts in the postnatal dog brainActive site residues of human beta-glucuronidase. Evidence for Glu(540) as the nucleophile and Glu(451) as the acid-base residue.Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.Recent advances in ophthalmic genetics. Genetic counselling.Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer.Brain-directed gene therapy for lysosomal storage disease: going well beyond the blood- brain barrier.Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors.Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII.Enzyme replacement therapy for murine mucopolysaccharidosis type VIIVEGF increases engraftment of bone marrow-derived endothelial progenitor cells (EPCs) into vasculature of newborn murine recipients.Behavioral consequences of bone marrow transplantation in the treatment of murine mucopolysaccharidosis type VII.Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology.Mucopolysaccharidoses and mucolipidoses.Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice.Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII.Activity-based probes for functional interrogation of retaining β-glucuronidases.
P2860
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P2860
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
description
1973 nî lūn-bûn
@nan
1973 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1973 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1973年の論文
@ja
1973年論文
@yue
1973年論文
@zh-hant
1973年論文
@zh-hk
1973年論文
@zh-mo
1973年論文
@zh-tw
1973年论文
@wuu
name
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@ast
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@en
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@nl
type
label
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@ast
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@en
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@nl
prefLabel
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@ast
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@en
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@nl
P2093
P1476
Beta glucuronidase deficiency: ...... f a new mucopolysaccharidosis.
@en
P2093
P304
P356
10.1016/S0022-3476(73)80162-3
P407
P577
1973-02-01T00:00:00Z