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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Bibliografiset tiedot
Julkaisussa:Am J Hematol
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
Aiheet:
Article
Linkit: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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