Mutational analysis of 105 mucopolysaccharidosis type VI patients. - Wikidata - wikimedia - TriplyDB

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

http://www.wikidata.org/entity/Q45345313

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Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature Mucopolysaccharidosis VI.Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany.Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.Glycosaminoglycan storage disorders: a review Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management Medical genetics and genomic medicine in India: current status and opportunities ahead.Mucopolysaccharidosis VI in cats - clarification regarding genetic testing Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene.Diagnostic and treatment strategies in mucopolysaccharidosis VI.Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).Mutations in ARSB in MPS VI patients in India.Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.The mucopolysaccharidoses: a success of molecular medicine.Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.Diagnosis of the mucopolysaccharidoses.Epidemiology of mucopolysaccharidoses.Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.MPS VI - Maroteaux-Lamy syndrome Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI.Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene.The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.

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P2860

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

http://www.wikidata.org/entity/Q45345313

description

2007 nî lūn-bûn

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年學術文章

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2007年學術文章

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name

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

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Mutational analysis of 105 mucopolysaccharidosis type VI patients.

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type

label

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

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Mutational analysis of 105 mucopolysaccharidosis type VI patients.

@nl

prefLabel

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

@en

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

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Mutational analysis of 105 mucopolysaccharidosis type VI patients.

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Anthony Pollard

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David Ketteridge

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Doug A Brooks

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Elisa Leão Teles

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Elizabeth L Melville

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James E Wraith

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John J Hopwood

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Leanne K Hein

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Litsa Karageorgos

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M Clara Sá Miranda

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P2860

Human N-acetylgalactosamine-4-sulphate sulphatase. Purification, monoclonal antibody production and native and subunit Mr values.

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897-903

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10.1002/HUMU.20534

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9

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28

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17458871

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