(Q84989739)

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13 February 2020

title

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up (English)

1 reference

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13 February 2020

1 reference

1

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13 February 2020

Massimo Santoro

2

1 reference

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13 February 2020

Enzo Ricci

4

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13 February 2020

Gabriella Silvestri

7

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13 February 2020

author name string

Anna Modoni

3

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13 February 2020

Jerome Guitton

5

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13 February 2020

Pietro Tonali

6

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13 February 2020

publication date

4 September 2010

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Journal of Inherited Metabolic Disease

13 February 2020

published in

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13 February 2020

volume

33 Suppl 3

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13 February 2020

page(s)

S355-61

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9186-3

13 February 2020

exact match

0 references

cites work

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Miglustat therapy in juvenile Sandhoff disease.

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

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N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

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Biochemical consequences of mutations causing the GM2 gangliosidoses

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

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12 December 2020

Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

1 reference

12 December 2020

Rapid quantification of miglustat in human plasma and cerebrospinal fluid by liquid chromatography coupled with tandem mass spectrometry

1 reference

12 December 2020

Substrate deprivation therapy in juvenile Sandhoff disease.

1 reference

12 December 2020

The Mental Deterioration Battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The Group for the Standardization of the Mental Deterioration Battery

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12 December 2020

Muscle MRI in inherited neuromuscular disorders: past, present, and future

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12 December 2020

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies

1 reference

12 December 2020

Sphingolipid metabolism diseases

1 reference

12 December 2020

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.

1 reference

12 December 2020

MRI appearance of muscle denervation

1 reference

12 December 2020

Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease

1 reference

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Substrate reduction therapy of glycosphingolipid storage disorders.

1 reference

12 December 2020