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: | , , , , , , |
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| Format: | Book |
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MDPI AG,
2023-04-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |