Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2045-2322
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression ; volume:12 ; number:1 ; day:9 ; month:2 ; year:2022 ; pages:1-13 ; date:12.2022
Scientific reports ; 12, Heft 1 (9.2.2022), 1-13, 12.2022
- Creator
-
Baxter, Laura L.
Watkins-Chow, Dawn E.
Johnson, Nicholas L.
Farhat, Nicole Y.
Platt, Frances M.
Dale, Ryan K.
Porter, Forbes D.
Pavan, William J.
Rodriguez-Gil, Jorge L.
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1038/s41598-022-06112-y
- URN
-
urn:nbn:de:101:1-2022120221355051350826
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:21 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Baxter, Laura L.
- Watkins-Chow, Dawn E.
- Johnson, Nicholas L.
- Farhat, Nicole Y.
- Platt, Frances M.
- Dale, Ryan K.
- Porter, Forbes D.
- Pavan, William J.
- Rodriguez-Gil, Jorge L.
- SpringerLink (Online service)
Other Objects (12)
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease
Untersuchungen zu pathophysiologischen Merkmalen des Morbus Niemann-Pick Typ C1
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Morbus Niemann-Pick
Niemann-Pick disease
Phenotypic expression of swallowing function in Niemann–Pick disease type C1
Niemann–Pick disease type C1 presenting with psychosis in an adolescent male
Niemann–Pick disease type C1 presenting with psychosis in an adolescent male
Niemann-Pick disease type C
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1
Funktionelle Charakterisierung von zerebellären Purkinjezellen eines Mausmodells des Morbus Niemann-Pick Typ C1
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease
Untersuchungen zu pathophysiologischen Merkmalen des Morbus Niemann-Pick Typ C1
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Morbus Niemann-Pick
Niemann-Pick disease
Phenotypic expression of swallowing function in Niemann–Pick disease type C1
Niemann–Pick disease type C1 presenting with psychosis in an adolescent male
Niemann–Pick disease type C1 presenting with psychosis in an adolescent male
Niemann-Pick disease type C
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1
Funktionelle Charakterisierung von zerebellären Purkinjezellen eines Mausmodells des Morbus Niemann-Pick Typ C1
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease
Untersuchungen zu pathophysiologischen Merkmalen des Morbus Niemann-Pick Typ C1
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Morbus Niemann-Pick
Niemann-Pick disease
Phenotypic expression of swallowing function in Niemann–Pick disease type C1
Niemann–Pick disease type C1 presenting with psychosis in an adolescent male
Niemann–Pick disease type C1 presenting with psychosis in an adolescent male
Niemann-Pick disease type C
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1
Funktionelle Charakterisierung von zerebellären Purkinjezellen eines Mausmodells des Morbus Niemann-Pick Typ C1