(Q44328450)

English

Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders

scientific article published in February 2003

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scholarly article

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Europe PubMed Central

2 December 2017

Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders (English)

1 reference

Europe PubMed Central

2 December 2017

author name string

Klaus Harzer

1

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Europe PubMed Central

2 December 2017

Gero Massenkeil

2

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Europe PubMed Central

2 December 2017

Eckhart Fröhlich

3

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Europe PubMed Central

2 December 2017

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publication date

1 February 2003

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2 December 2017

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Europe PubMed Central

2 December 2017

537

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Europe PubMed Central

2 December 2017

1-3

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Europe PubMed Central

2 December 2017

177-181

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Europe PubMed Central

2 December 2017

The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Identification of HE1 as the second gene of Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Niemann-Pick type C mutations cause lipid traffic jam.

1 reference

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21 January 2018

Effect of the structure of natural sterols and sphingolipids on the formation of ordered sphingolipid/sterol domains (rafts). Comparison of cholesterol to plant, fungal, and disease-associated sterols and comparison of sphingomyelin, cerebrosides, a

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Sphingolipid signalling domains floating on rafts or buried in caves?

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Sphingolipids in mammalian cell signalling

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Jamming the endosomal system: lipid rafts and lysosomal storage diseases.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Structure and function of sphingolipid- and cholesterol-rich membrane rafts

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Ultrasound echogenic splenic tumors: nodular manifestation of type C Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Quantified increases of cholesterol, total lipid and globotriaosylceramide in filipin-positive Niemann-Pick type C fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Roles of lipid rafts in membrane transport

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

An adult with a non-neuronopathic form of Niemann-Pick C disease

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

A family with combined Farber and Sandhoff, isolated Sandhoff and isolated fetal Farber disease: postnatal exclusion and prenatal diagnosis of Farber disease using lipid loading tests on intact cultured cells

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

[A NEW METHOD FOR THE QUANTITATIVE ULTRAMICRODETERMINATION OF SPHINGOLIPIDS FROM THE BRAIN]

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

21 January 2018

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

7 January 2021

Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

7 January 2021

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

7 January 2021

Decreased membrane fluidity and unsaturated fatty acids in Niemann-Pick disease type C fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

7 January 2021

Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case.

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2803%2900100-5

7 January 2021

Identifiers

10.1016/S0014-5793(03)00100-5

1 reference

Europe PubMed Central

2 December 2017

1 reference

Europe PubMed Central

2 December 2017

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