Work

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

Year: 2006

Type: article

Study design: Case Report

Source: Brain

DOI: 10.1093/brain/awl107

Authors: E. Siintola, Sanna Partanen, Petter Strömme, Aleksi Haapanen, Matti Haltia, Jan Maehlen, Anna-Elina Lehesjoki, Jaana Tyynelä

Institution: University of Helsinki

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

OpenAlex ID: W2145396101

FWCI: 19.97

Cites: 24

Cited by: 403

Related to: 10