Work

Novel mutations in 13 probands with galactokinase deficiencyV. Kolosha and E. Anoia contributed equally to this work.

Year: 2000

Type: article

Study design: Observational Study

Source: Human Mutation

DOI: 10.1002/(sici)1098-1004(200005)15:5<447::aid-humu6>3.3.co;2-d

Authors: V. Kolosha, E. Anoia, C. de Cespedes, R. Gitzelmann, L. Shih, T. Casco, M. Saborio, R. Trejos, N. Buist, T. Tedesco, W. Skach, O. Mitelmann, D. Ledee, K. Huang, D. Stambolian

Institutions: University of Pennsylvania, Universidad de Costa Rica, University Children's Hospital Zurich, Rutgers New Jersey Medical School, Oregon Health & Science University, University of South Florida

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

OpenAlex ID: W2615730109

FWCI: 0.188

Cites:

Cited by: 1

Related to: 10