Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. - Wikidata - wikimedia - TriplyDB

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

http://www.wikidata.org/entity/Q34246168

about

Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.The natural history of MPS I: global perspectives from the MPS I Registry.Anthropometric characteristics of four Polish children with mucopolysaccharidosis.Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences.Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.Current and potential therapeutic strategies for mucopolysaccharidoses.Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration.Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome.An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome].SAAMP 2.0: an algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.Mucopolysaccharidosis type I and craniosynostosis.A Unique Case of Cervical Myelopathy in an Adult Patient with Scheie Syndrome.Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

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P2860

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

http://www.wikidata.org/entity/Q34246168

description

2012 nî lūn-bûn

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2012 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2012年の論文

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European Journal of Pediatrics

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Diagnosis and treatment trends ...... dings from the MPS I Registry.

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Frits Wijburg

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Gerald F Cox

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Kristin D'Aco

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Lakshmi Rangachari

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Lisa Underhill

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Paige Kaplan

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Pamela Arn

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Roberto Giugliani

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Torayuki Okuyama

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P2860

Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I.

Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.

The frequency of lysosomal storage diseases in The Netherlands.

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.

Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I.

Prevalence of lysosomal storage disorders.

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world.

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.

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