Genetic Variability of HUPRA Syndrome-A Case Report

HUPRA syndrome is a rare autosomal recessive mitochondrial disorder caused by a mutation in the <i>SARS2</i> gene encoding mitochondrial seryl-tRNA synthetase (mtSerRS). It includes hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. We present a case report of a boy age...

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Main Authors: Edita Petrosyan (Author), Maria Molchanova (Author), Berta Kushnir (Author), Patritsia Povilaitite (Author), Polina Tsygankova (Author), Ekaterina Zakharova (Author), Maria Proskura (Author)
Format: Book
Published: MDPI AG, 2023-04-01T00:00:00Z.
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3rd Floor Main Library

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