Work

eP031: Clinical and biochemical characterization of carnitine palmitoyltransferase-2 deficiency and novel case exacerbated by heterozygosity with partial carnitine transporter deficiency

Year: 2022

Type: article

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2022.01.069

Authors: Brian Shayota, Bijina Balakrishnan, Lorenzo Botto, Marzia Pasquali, Nicola Longo

Institution: University of Utah

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: bronze

OpenAlex ID: W4221076077

FWCI:

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