Work

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain

Year: 2013

Type: article

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2013.207

Authors: Jules G Leroy, David Sillence, Tim Wood, Jarrod Barnes, Robert Roger Lebel, Michael J Friez, Roger E Stevenson, Richard Steet, Sara S Cathey

Institutions: Greenwood Genetic Center, Children's Hospital at Westmead, University of Georgia, SUNY Upstate Medical University

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National MPS Society, Rare Diseases Clinical Research Network, National Institutes of Health, Lysosomal Disease Network, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke

Awards: G1392224058, G1693708183, G2472270058, PATHOGENIC MECHANISMS OF LYSOSOMAL DISEASE, G686403386, G9000138761, G9000162642

OpenAlex ID: W2102541985

FWCI: 1.381

Cites: 21

Cited by: 19

Related to: 10