Niemann-Pick disease type C: two cases and an update (Q34097290)

31 July 2017

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title

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

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Niemann-Pick disease, type C1

31 July 2017

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Uc EY

1

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31 July 2017

Wenger DA

series ordinal

2

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31 July 2017

Jankovic J

series ordinal

3

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31 July 2017

language of work or name

English

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publication date

1 November 2000

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31 July 2017

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31 July 2017

15

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6

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31 July 2017

1199-1203

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Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

31 July 2017

1 reference

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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

21 January 2018

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The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

21 January 2018

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Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease

21 January 2018

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Juvenile dystonic lipidosis: An unusual form of neurovisceral storage disease

21 January 2018

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Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two cases reports and review of the literature

21 January 2018

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Ocular Motor Signs in Some Metabolic Diseases

21 January 2018

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

21 January 2018

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A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients.

21 January 2018

1 reference

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Phenytoin neuropathy: structural changes in the sural nerve

21 January 2018

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Clinical spectrum of Niemann-Pick disease type C.

21 January 2018

1 reference

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Niemann-Pick disease type C. From bench to bedside

21 January 2018

1 reference

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Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study.

21 January 2018

1 reference

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The diverse neurological features of Niemann-Pick disease type C: a report of two cases.

21 January 2018

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Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C.

21 January 2018

1 reference

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Recent advances in elucidating Niemann-Pick C disease

21 January 2018

1 reference

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Niemann‐Pick disease type C: An update

21 January 2018

1 reference

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The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C.

21 January 2018

1 reference

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Reduced cholesterol accumulation and improved deficient peroxisomal functions in a murine model of Niemann-Pick type C disease upon treatment with peroxisomal proliferators

21 January 2018

1 reference

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Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation

21 January 2018

1 reference

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21 January 2018

1 reference

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Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings

21 January 2018

1 reference

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21 January 2018

Narcolepsy in children

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease — development and evaluation of a microprocedure

21 January 2018

1 reference

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10.1002/1531-8257(200011)15:6<1199::AID-MDS1020>3.0.CO;2-1

21 January 2018

Identifiers

DOI

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31 July 2017

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