Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype (Q44123131)

30 November 2017

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype (English)

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30 November 2017

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Eduard Orvisky

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30 November 2017

Joseph K Park

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30 November 2017

Mary E LaMarca

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30 November 2017

Edward I Ginns

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30 November 2017

Brian M Martin

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30 November 2017

Nahid Tayebi

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30 November 2017

Ellen Sidransky

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30 November 2017

1 August 2002

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Molecular Genetics and Metabolism

30 November 2017

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30 November 2017

76

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30 November 2017

262-270

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Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

30 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

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Inhibition of cytochrome c oxidase and hemolysis caused by lysosphingolipids

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

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Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

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Psychosine is as potent an inducer of cell death as C6-ceramide in cultured fibroblasts and in MOCH-1 cells

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

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Identification of a molecular target of psychosine and its role in globoid cell formation

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Inhibition of cytokinesis by a lipid metabolite, psychosine

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

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Hematologically important mutations: Gaucher disease

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

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Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

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Differentiation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Enzymic oxidation of cerebrosides: studies on Gaucher's disease

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Accumulation of galactosylsphingosine (psychosine) in the twitcher mouse: determination by HPLC.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Accumulation of lysosulfatide (sulfogalactosylsphingosine) in tissues of a boy with metachromatic leukodystrophy

1 reference

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7 January 2021

Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriaosylsphingosine) in GM2 gangliosidosis brain.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: more lyso-GM2 in Sandhoff disease?

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidoses

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900117-8

7 January 2021

10.1016/S1096-7192(02)00117-8

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DOI

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30 November 2017

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