Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment (Q46060912)

19 December 2017

title

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

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19 December 2017

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5

Edwin H Kolodny

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19 December 2017

author name string

Barbara E Shapiro

1

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19 December 2017

Gregory M Pastores

2

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19 December 2017

John Gianutsos

3

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19 December 2017

Cécile Luzy

4

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19 December 2017

language of work or name

English

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publication date

1 June 2009

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19 December 2017

published in

Genetics in Medicine

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19 December 2017

volume

11

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19 December 2017

issue

6

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19 December 2017

page(s)

425-433

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19 December 2017

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181a1b5c5

exact match

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cites work

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

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The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

21 January 2018

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Juvenile GM2-gangliosidosis: Clinical variant of Tay-Sachs disease or a new disease

21 January 2018

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Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.

21 January 2018

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Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship

21 January 2018

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

21 January 2018

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

21 January 2018

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Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

21 January 2018

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Neuropsychiatric aspects of the adult variant of Tay-Sachs disease

21 January 2018

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Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

21 January 2018

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

21 January 2018

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

21 January 2018

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Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

21 January 2018

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Substrate reduction therapy in the infantile form of Tay-Sachs disease

21 January 2018

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

21 January 2018

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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

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Intensive immunosuppression in progressive multiple sclerosis. A randomized, three-arm study of high-dose intravenous cyclophosphamide, plasma exchange, and ACTH.

21 January 2018

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Fear of falling revisited.

21 January 2018

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Assessing tremor severity

21 January 2018

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Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients

21 January 2018

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Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS).

21 January 2018

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Neuropsychological assessment of patients with late onset GM2 gangliosidosis.

21 January 2018

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Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study

21 January 2018

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Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.

21 January 2018

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Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

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

21 January 2018

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Maximal isometric muscle strength: normative values and gender-specific relation to age.

21 January 2018

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Grip strength in healthy caucasian adults: reference values

21 January 2018

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10.1097/GIM.0B013E3181A1B5C5

21 January 2018

Identifiers

DOI

1 reference

19 December 2017

Dimensions Publication ID

1018263260

0 references

Fatcat ID

release_sepqoxniczggbl2bzlwnsg5zne

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sepqoxniczggbl2bzlwnsg5zne

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

19346952

1 reference

19 December 2017