Sphingomyelinase and Niemann-Pick Disease

Enzymes of Lipid Metabolism II ◽

10.1007/978-1-4684-5212-9_94 ◽

1986 ◽

pp. 791-802 ◽

Author(s):

Marie T. Vanier ◽

Robert Rousson ◽

Randa Zeitouni ◽

Peter G. Pentchev ◽

Pierre Louisot

Keyword(s):

Niemann Pick Disease ◽

Niemann Pick ◽

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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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Niemann-pick disease in the Chinese

Pathology ◽

10.3109/00313028909061063 ◽

1989 ◽

Vol 21 (3) ◽

pp. 223-226 ◽

Author(s):

Robert J. Collins ◽

W.T. Liu ◽

Stephen T.S. Lam ◽

H.J. Lin

Keyword(s):

Niemann Pick Disease ◽

Niemann Pick ◽

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Orphan designation: Acetylleucine, Treatment of Niemann-Pick disease

Case Medical Research ◽

10.31525/cmr-1103413 ◽

2019 ◽

Author(s):

Keyword(s):

Orphan Designation ◽

Niemann Pick Disease ◽

Niemann Pick ◽

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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 Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B).

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

10.3410/f.717597820.793453174 ◽

2012 ◽

Author(s):

Guadalupe Garcia-Tsao

Keyword(s):

Disease Type ◽

Acid Sphingomyelinase ◽

Type B ◽

Sphingomyelinase Deficiency ◽

Niemann Pick Disease ◽

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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