Work

Loss of function variants in L2HGDH gene causing l-2-hydroxyglutaric aciduria

Year: 2023

Type: article

Study design: Case Report

Source: Acta Neurologica Belgica

DOI: 10.1007/s13760-023-02318-7

Authors: Anikha Bellad, Vikram V. Holla, Riyanka Kumari, Nitish Kamble, Ravi Yadav, Akhilesh Pandey, Pramod Kumar Pal, Babylakshmi Muthusamy

Institutions: Manipal Academy of Higher Education, Institute of Bioinformatics, National Institute of Mental Health and Neurosciences, Mayo Clinic

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: W4382345202

FWCI:

Cites: 25

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Related to: 10