Work

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

Year: 2015

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2014.293

Authors: Alexandre Janer, Clara DM van Karnebeek, Florin Sasarman, Hana Antonicka, Malak Al Ghamdi, Casper Shyr, Mary Dunbar, Sylvia Stockler-Ispiroglu, Colin J Ross, Hilary Vallance, Janis Dionne, Wyeth W Wasserman, Eric A Shoubridge

Institutions: Montreal Neurological Institute and Hospital, McGill University, University of British Columbia, BC Children's Hospital, Child and Family Research Institute

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Children's Hospital Foundation, BC Children's Hospital, Michael Smith Health Research BC, Genome British Columbia, Canadian Institutes of Health Research

Awards: G4464638377, G7667290071

OpenAlex ID: W2105192589

FWCI: 1.841

Cites: 16

Cited by: 35

Related to: 10