Non-neuronopathic Gaucher disease due to saposin C deficiency. (Q53523366)

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8 January 2020

title

Non-neuronopathic Gaucher disease due to saposin C deficiency (English)

1 reference

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8 January 2020

1 reference

1

1 reference

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8 January 2020

Agnieszka Ługowska

6

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8 January 2020

Elżbieta Jurkiewicz

9

1 reference

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8 January 2020

author name string

Czartoryska B

2

1 reference

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8 January 2020

Vanier MT

3

1 reference

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8 January 2020

Poorthuis BJ

4

1 reference

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8 January 2020

Groener JA

5

1 reference

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8 January 2020

Millat G

7

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8 January 2020

Vaccaro AM

8

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8 January 2020

publication date

7 October 2007

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8 January 2020

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8 January 2020

volume

72

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8 January 2020

issue

6

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8 January 2020

page(s)

538-542

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Molecular and cell biology of acid beta-glucosidase and prosaposin

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00899.X

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00899.X

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00899.X

Glucosylceramide modulates membrane traffic along the endocytic pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00899.X

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00899.X

Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00899.X

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00899.X

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00899.X

Solution structure of human saposin C in a detergent environment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00899.X