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Niemann-Pick disease type C in the newborn period: a single-center experience
European Journal of Pediatrics
◽
10.1007/s00431-017-3020-y
◽
2017
◽
Vol 176
(12)
◽
pp. 1669-1676
◽
Cited By ~ 5
Author(s):
Ersin Gumus
◽
Goknur Haliloglu
◽
Asuman Nur Karhan
◽
Hulya Demir
◽
Figen Gurakan
◽
...
Keyword(s):
Disease Type
◽
Single Center
◽
Newborn Period
◽
Single Center Experience
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
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Cited By
References
Niemann-Pick disease type C in the newborn period: Reflections from 10 patients
Molecular Genetics and Metabolism
◽
10.1016/j.ymgme.2015.12.493
◽
2016
◽
Vol 117
(2)
◽
pp. S123
◽
Cited By ~ 1
Author(s):
Aysel Yuce
◽
Ersin Gumus
◽
Goknur Haliloglu
◽
Asuman N. Karhan
◽
Didem Ardicli
◽
...
Keyword(s):
Disease Type
◽
Newborn Period
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
◽
Pick Disease
Download Full-text
Tonic prime-boost of STING signalling mediates Niemann–Pick disease type C
Nature
◽
10.1038/s41586-021-03762-2
◽
2021
◽
Author(s):
Ting-Ting Chu
◽
Xintao Tu
◽
Kun Yang
◽
Jianjun Wu
◽
Joyce J. Repa
◽
...
Keyword(s):
Disease Type
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
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