Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. - Wikidata - awgldk - TriplyDB

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

http://www.wikidata.org/entity/Q46060912

about

Therapeutic potential of intracerebroventricular replacement of modified human β-hexosaminidase B for GM2 gangliosidosis Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders Rethinking fatigue in Gaucher disease Psychiatric manifestations of treatable hereditary metabolic disorders in adults Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease Gastrointestinal disturbances and their management in miglustat-treated patients.Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease Development of targeted therapies for Parkinson's disease and related synucleinopathies Therapeutic approaches for lysosomal storage diseases Atypical presentation of late-onset Tay-Sachs disease Newborn screening for lysosomal storage disorders.Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality.Lysosomal storage diseases--the horizon expands.Treatment of lysosomal storage disorders: successes and challenges.Infantile gangliosidoses: Mapping a timeline of clinical changes.Substrate reduction therapy for Krabbe's disease.Small molecules as therapeutic agents for inborn errors of metabolism.Protein misfolding diseases: prospects of pharmacological treatment.Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease.Dietary modifications in patients receiving miglustat.Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.

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P2860

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

http://www.wikidata.org/entity/Q46060912

description

2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年學術文章

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2009年學術文章

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2009年學術文章

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name

Miglustat in late-onset Tay-Sa ...... months of extended treatment.

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Miglustat in late-onset Tay-Sa ...... months of extended treatment.

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Miglustat in late-onset Tay-Sa ...... months of extended treatment.

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Miglustat in late-onset Tay-Sa ...... months of extended treatment.

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Miglustat in late-onset Tay-Sa ...... months of extended treatment.

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Miglustat in late-onset Tay-Sa ...... months of extended treatment.

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Genetics in Medicine

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Miglustat in late-onset Tay-Sa ...... months of extended treatment.

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Barbara E Shapiro

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Cécile Luzy

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Edwin H Kolodny

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Gregory M Pastores

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John Gianutsos

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P2860

“Mini-mental state”

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

Juvenile Sandhoff disease--nine new cases and a review of the literature

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment.

Assessing tremor severity.

The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.

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