Work

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: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2022.01.085

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: closed

OpenAlex ID: W4220706698

FWCI:

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