Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62.

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

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Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology
04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic and Interventional Neuroradiology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Endocrinology/Metabolic Disorders

Graduate School:

Graduate School for Health Sciences (GHS)

UniBE Contributor:

Nogueira da Silva e Sousa, Mario Jorge, Maamari, Basel, Brémovà-Ertl, Tatiana, Nuoffer, Jean-Marc, Wiest, Roland Gerhard Rudi, Amstutz, Deborah, Krack, Paul, Bartholdi, Deborah, Tinkhauser, Gerd

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1873-5126

Publisher:

Elsevier

Language:

English

Submitter:

Pubmed Import

Date Deposited:

27 Jun 2023 10:23

Last Modified:

24 Feb 2024 00:11

Publisher DOI:

10.1016/j.parkreldis.2023.105460

PubMed ID:

37355399

Uncontrolled Keywords:

Atypical parkinsonism Cerebellar ataxia Niemann Pick type C Supra-nuclear gaze palsy

BORIS DOI:

10.48350/184110

URI:

https://boris.unibe.ch/id/eprint/184110

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