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

O. Schofer; B. Mischo; W. Püschel; K. Harzer; M. T. Vanier

doi:10.1007/s004310050764

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

European Journal of Pediatrics ◽

10.1007/s004310050764 ◽

1998 ◽

Vol 157 (1) ◽

pp. 45-49 ◽

Cited By ~ 44

Author(s):

O. Schofer ◽

B. Mischo ◽

W. Püschel ◽

K. Harzer ◽

M. T. Vanier

Keyword(s):

Complementation Group ◽

Genetic Complementation ◽

Type C ◽

Niemann Pick

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A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C

Human Genetics ◽

10.1007/s004390050370 ◽

1997 ◽

Vol 99 (3) ◽

pp. 350-353 ◽

Cited By ~ 12

Author(s):

S. Akaboshi ◽

Tamami Yano ◽

Shigeki Miyawaki ◽

Kousaku Ohno ◽

Kenzo Takeshita

Keyword(s):

Mouse Model ◽

Complementation Group ◽

Disease Type ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

Childhood Type ◽

Pick Disease

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Deficient Ferritin Immunoreactivity in Tissues from Niemann–Pick Type C Patients: Extension of Findings to Fetal Tissues, H and L Ferritin Isoforms, but also One Case of the Rare Niemann–Pick C2 Complementation Group

Molecular Genetics and Metabolism ◽

10.1006/mgme.2000.3004 ◽

2000 ◽

Vol 70 (3) ◽

pp. 196-202 ◽

Cited By ~ 16

Author(s):

Helen Christomanou ◽

Marie T. Vanier ◽

Paolo Santambrogio ◽

Paolo Arosio ◽

Wim J. Kleijer ◽

...

Keyword(s):

Complementation Group ◽

Fetal Tissues ◽

Type C ◽

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 ◽

Life Scale ◽

Type C ◽

Niemann Pick ◽

Pick Disease

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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 ◽

Pick Disease

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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 ◽

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 ◽

Pick Disease

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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 ◽

Pick Disease

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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 ◽

Adult Form ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

Pick Disease

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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 ◽

Pick Disease

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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 ◽

Pick Disease

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