Work

Broadening the genetic spectrum of “early-onset dementia plus”: Novel TMEM67 variants causing a Coach syndrome & Niemann Pick Type C phenocopy

Year: 2017

Type: article

Study design: Case Report

Source: European Journal of Paediatric Neurology

DOI: 10.1016/j.ejpn.2017.04.1042

Authors: P. Dragoumi, E. Vargiami, M. Kyriazi, M. Tarailo-Graovac, C.J. Ross, W. Wasserman, R. Wevers, C. Van Karnebeek, D. Zafeiriou

Institution: Aristotle University of Thessaloniki

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology (medical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2889347320

FWCI:

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