O68 – 2091 Neurological phenotypes in Niemann-Pick type C disease: unraveling an overlooked neurometabolic disorder

European Journal of Paediatric Neurology ◽

10.1016/s1090-3798(13)70070-9 ◽

2013 ◽

Vol 17 ◽

pp. S21-S22

Author(s):

CM Lourenço ◽

V Van der Linden ◽

D Bonfim ◽

E Ribeiro ◽

W Marques Jr

Keyword(s):

Neurometabolic Disorder ◽

Type C ◽

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Niemann-Pick Disease Type C Quality-of-Life Scale for Adults

PsycTESTS Dataset ◽

10.1037/t75153-000 ◽

2019 ◽

Author(s):

Lydia Aston ◽

Rachel Shaw ◽

Rebecca Knibb

Keyword(s):

Quality Of Life ◽

Disease Type ◽

Niemann Pick Disease ◽

Quality Of Life Scale ◽

Type C ◽

Niemann Pick ◽

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ANALYSIS OF CHOLESTEROL AND OXYSTEROL LEVELS IN NIEMANN PICK DISEASE TYPE C MICE AND PATIENTS

Neuropediatrics ◽

10.1055/s-2006-945720 ◽

2006 ◽

Vol 37 (S 1) ◽

Author(s):

S Tay ◽

X He ◽

AM Jenner ◽

BS Wong ◽

WY Ong

Keyword(s):

Disease Type ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

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Engineering functionalized beta-cyclodextrins to improve cholesterol clearance in Niemann-Pick type C disease cells

10.33015/dominican.edu/2018.bio.10 ◽

2018 ◽

Author(s):

Rena Chan

Keyword(s):

Type C ◽

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Orphan designation: Hydroxy-propyl-beta-cyclodextrin, Treatment of Niemann-Pick disease, type C

Case Medical Research ◽

10.31525/cmr-399673 ◽

2019 ◽

Author(s):

Keyword(s):

Disease Type ◽

Orphan Designation ◽

Beta Cyclodextrin ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

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Orphan designation: miglustat, Treatment of Niemann-Pick disease, type C

Case Medical Research ◽

10.31525/cmr-bc1108 ◽

2019 ◽

Author(s):

Keyword(s):

Disease Type ◽

Orphan Designation ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

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Faculty Opinions recommendation of The adult form of Niemann-Pick disease type C.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1085930.538703 ◽

2007 ◽

Author(s):

Peter Brown

Keyword(s):

Disease Type ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

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Faculty Opinions recommendation of Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725350592.793542531 ◽

2018 ◽

Author(s):

Barbara Borroni

Keyword(s):

Laboratory Diagnosis ◽

Disease Type ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

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Faculty Opinions recommendation of Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.726446034.793542532 ◽

2018 ◽

Author(s):

Barbara Borroni

Keyword(s):

Critical Review ◽

Diagnostic Tests ◽

Disease Type ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

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Faculty Opinions recommendation of Cognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.729491176.793542536 ◽

2018 ◽

Author(s):

Barbara Borroni

Keyword(s):

Disease Type ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

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Pharmacological Activation of LXRs Decreases Amyloid-β Levels in Niemann-Pick Type C Model Cells

Current Pharmaceutical Biotechnology ◽

10.2174/138920101131400224 ◽

2013 ◽

Vol 14 (6) ◽

pp. 582-593 ◽

Author(s):

Jasminka Stefulj ◽

Maja Peric ◽

Martina Malnar ◽

Marko Kosicek ◽

Cornelia Schweinzer ◽

...

Keyword(s):

Type C ◽

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