Work

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death

Year: 2018

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2018.11.008

Authors: Brent A. Penque, Leila Su, Jianghai Wang, Weizhen Ji, Allen Bale, Frank Luh, Robert K. Fulbright, Uzair Sarmast, Annalisa G. Sega, Monica Konstantino, Michele Spencer-Manzon, Richard Pierce, Yun Yen, Saquib A. Lakhani

Institutions: Yale University, Taipei Medical University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Yale New Haven Hospital, National Institute of Mental Health

Award: Research Education for Future Physician-Scientists in Child Psychiatry

OpenAlex ID: W2901020626

FWCI: 4.662

Cites: 19

Cited by: 18

Related to: 10