Work

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

Year: 2014

Type: article

Study design: Case Report

Source: European Journal of Paediatric Neurology

DOI: 10.1016/j.ejpn.2014.07.008

Authors: Dana Craiu, Octavia Dragostin, Alice Dica, Dorota Hoffman-Zacharska, Monika Gos, Alexandra Eugenia Bastian, Mihaela Gherghiceanu, Arndt Rolfs, Nahid Nahavandi, Mihai Craiu, Catrinel Iliescu

Institutions: Carol Davila University of Medicine and Pharmacy, Spitalul Clinic de Psihiatrie Alexandru Obregia, Instytut Matki i Dziecka, Spitalul Clinic Colentina, Institutul National Victor Babes, Centogene (Germany), University of Rostock, Institutul National pentru Sanatatea Mamei si Copilului "Alessandrescu-Rusescu"

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Unitatea Executiva pentru Finantarea Invatamantului Superior, a Cercetarii, Dezvoltarii si Inovarii, European Social Fund

OpenAlex ID: W2040301614

FWCI: 1.802

Cites: 98

Cited by: 31

Related to: 10