Work

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

Year: 2020

Type: article

Study design: Observational Study

Source: Metabolic Brain Disease

DOI: 10.1007/s11011-020-00554-x

Authors: Marina V. Kurkina, Svetlana V. Mihaylova, Galina V. Baydakova, Elena V. Saifullina, Sergey A. Korostelev, Denis V. Pyankov, Ilya V. Kanivets, Maksim A. Yunin, Natalya L. Pechatnikova, Ekaterina Y. Zakharova

Institutions: Research Centre for Medical Genetics, Pirogov Russian National Research Medical University, Russian Children's Clinical Hospital, Ministry of Health of the Russian Federation, Bashkir State Medical University, Sechenov University, Russian Medical Academy of Continuous Professional Education, City Clinical Hospital

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: W3014587700

FWCI: 2.989

Cites: 12

Cited by: 26

Related to: 10