Work

Identification of HE1 as the Second Gene of Niemann-Pick C Disease

Year: 2000

Type: article

Source: Science

DOI: 10.1126/science.290.5500.2298

Authors: Saule Naureckiene, David. E. Sleat, Henry Lackland, Anthony Fensom, Marie T. Vanier, Robert Wattiaux, Michel Jadot, Peter Lobel

Institutions: University of Medicine and Dentistry of New Jersey, Guy's Hospital, Inserm, Hôpital Lyon Sud, University of Namur

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Neurological Disorders and Stroke

Awards: G1155784619, G1333013348, MOLECULAR BASIS OF LYSOSOMAL ENZYME TARGETING, G4338001037, Novel Lysosomal Enzyme Deficient in Batten Disease, Lysosomal Enzymes and Associated Human Genetic Diseases

OpenAlex ID: W2053203314

FWCI: 18.15

Cites: 28

Cited by: 823

Related to: 10