Work

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Year: 1995

Type: article

Study design: Observational Study

Source: Nature

DOI: 10.1038/376584a0

Authors: Jouni Vesa, Elina Hellsten, Linda A. Verkruyse, Laura A. Camp, Juhani Rapola, Pirkko Santavuori, Sandra L. Hofmann, Leena Peltonen

Institutions: Finnish Institute for Health and Welfare, Harold C. Simmons Comprehensive Cancer Center, The University of Texas Southwestern Medical Center, University of Helsinki, Helsinki Children's Hospital

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W1970047246

FWCI: 21.1

Cites: 29

Cited by: 737

Related to: 10