Niemann‐Pick disease type C: An update (Q36816810)

16 August 2017

1 reference

title

Niemann-Pick disease type C: an update (English)

1 reference

https://api.crossref.org/works/10.1007/BF01797928

16 August 2017

Niemann‐Pick disease type C: An update (English)

1 reference

15 November 2022

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Niemann-Pick disease, type C1

1 reference

1 reference

https://api.crossref.org/works/10.1007/BF01797928

15 November 2022

author name string

Rodriguez-Lafrasse C

3

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16 August 2017

M. T. Vanier

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1749223

15 November 2022

P. Pentchev

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1749223

15 November 2022

C. Rodriguez-Lafrasse

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1749223

15 November 2022

R. Rousson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1749223

15 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1749223

15 November 2022

publication date

1 January 1991

1 reference

full work available at URL

16 August 2017

https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF01797928

1 reference

https://api.crossref.org/works/10.1007/BF01797928

Journal of Inherited Metabolic Disease

15 November 2022

published in

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16 August 2017

volume

14

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16 August 2017

issue

4

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16 August 2017

page(s)

580-595

1 reference

Defective activity of acyl-CoA:cholesterol O-acyltransferase in Niemann-Pick type C and type D fibroblasts

16 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FBF01797928

Clinical spectrum of Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01797928

Pharmacological inhibition of the intracellular transport of low-density lipoprotein-derived cholesterol in Chinese hamster ovary cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01797928

Adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01797928

Intracellular transport of cholesterol in type C Niemann-Pick fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01797928

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

21 January 2018

1 reference

12 December 2020

Clinical heterogeneity in a sibship with Niemann-Pick disease type C

1 reference

12 December 2020

Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes.

1 reference

12 December 2020

Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts.

1 reference

12 December 2020

Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts

1 reference

12 December 2020

Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type C.

1 reference

12 December 2020

Niemann-Pick type C disease and early cholestasis in three brothers

1 reference

12 December 2020

Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport

1 reference

12 December 2020

Lactosylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts

1 reference

12 December 2020

Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Niemann-Pick disease type C. Study on the nature of the cerebral storage process

1 reference

12 December 2020

Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol.

1 reference

12 December 2020

Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease

1 reference

12 December 2020

Diagnosis of Niemann-Pick disease type C on chorionic villus cells

1 reference

12 December 2020

A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol

1 reference

12 December 2020

Type C Niemann-Pick disease: clinical and biochemical studies on 6 cases

1 reference

12 December 2020

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

1 reference

12 December 2020

The cerebral defect in Tay-Sachs disease and Niemann-Pick disease

1 reference

12 December 2020

The intracellular transport of low density lipoprotein-derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3-beta-[2-(diethylamino)ethoxy]androst-5-en-17-one

1 reference

12 December 2020

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes

1 reference

12 December 2020

Early infantile, cholestatic, rapidly-fatal form of type C sphingomyelinosis. 2 cases

1 reference

12 December 2020

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

1 reference

12 December 2020

Impaired cholesterol esterification in cultured skin fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy

1 reference

12 December 2020

Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol.

1 reference

12 December 2020

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

1 reference

12 December 2020

Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts

1 reference

12 December 2020

Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media

1 reference

12 December 2020

Fetal ascites: an unusual presentation of Niemann-Pick disease type C

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01797928

1 reference

16 August 2017

1 reference