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pro vyhledávání: '"Patritsia Povilaitite"'
Autor:
Edita Petrosyan, Maria Molchanova, Berta Kushnir, Patritsia Povilaitite, Polina Tsygankova, Ekaterina Zakharova, Maria Proskura
Publikováno v:
Kidney and Dialysis, Vol 3, Iss 2, Pp 196-203 (2023)
HUPRA syndrome is a rare autosomal recessive mitochondrial disorder caused by a mutation in the SARS2 gene encoding mitochondrial seryl-tRNA synthetase (mtSerRS). It includes hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. We pre
Externí odkaz:
https://doaj.org/article/08836e1b0e0b4861b0401d930c0322ec
