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Difficulties in diagnosing pyruvate dehydrogenase complex deficiency based on clinical and biochemical data: series of clinical case reports

Year: 2024

Type: article

Study design: Case Report

Source: PEDIATRIA Journal named after G N SPERANSKY

DOI: 10.24110/0031-403x-2024-103-6-139-148

Authors: S.V. Mikhaylova, E.Yu. Zakharova, M.V. Zazhivikhina, N.A. Votyakova, M.E. Abdullina, P.G. Tsygankova, Yu.B. Yurasova, E.L. Usacheva, E.E. Petryaykina

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: W4405136784

FWCI:

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