Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.
CONCLUSIONS: We confirmed the genetic diagnosis of mevalonic aciduria caused by MVK deficiency which had been masked by liver disease and the possible misdiagnosis of alpha-1-antitrypsin deficiency.
PMID: 31430439 [PubMed - as supplied by publisher]
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Satekge TM, Kiabilua O, Terblanche AJ, Bida M, Pillay TS Tags: Clin Chim Acta Source Type: research
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