Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow...

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Detalhes bibliográficos
Publicado no:Am J Hematol
Main Authors: Bianchi, Paola, Fermo, Elisa, Glader, Bertil, Kanno, Hitoshi, Agarwal, Archana, Barcellini, Wilma, Eber, Stefan, Hoyer, James D., Kuter, David J., Maia, Tabita Magalhães, del Mar Mañu-Pereira, Maria, Kalfa, Theodosia A., Pissard, Serge, Segovia, José-Carlos, van Beers, Eduard, Gallagher, Patrick G., Rees, David C., van Wijk, Richard
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7344868/
https://ncbi.nlm.nih.gov/pubmed/30358897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.25325
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