Article

Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from China

2024-01-16

Abstract excerpt

<title>Abstract</title><p>Background Propionic acidemia (PA) is an inherited organic acid metabolic disease involving multiple physiological systems with variable manifestations. The causative genes,<italic>PCCA</italic>and<italic>PCCB</italic>, carry a wide range of mutations. The present study aimed to investigate the phenotype and genotype features of PA in Chinese patients. Methods We enrolled 133 PA patients...

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Literature Corpus work: 52b758d0-8dca-53fa-bc50-512a01e325b5
DOI: 10.21203/rs.3.rs-3819961/v1

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