Work

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

Year: 2004

Type: article

Source: Human Mutation

DOI: 10.1002/humu.9223

Authors: Federica Sangiuolo, Mauro Magnani, Dwight Stambolian, Giuseppe Novelli

Institutions: University of Rome Tor Vergata, University of Urbino, University of Pennsylvania

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: Ministero della Salute, Ministero dell’Istruzione, dell’Università e della Ricerca

OpenAlex ID: W2035762204

FWCI: 1.666

Cites:

Cited by: 38

Related to: 10