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The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design

INTRODUCTION: Pyruvate kinase (PK) deficiency is a rare, under-recognised, hereditary condition that leads to chronic haemolytic anaemia and potentially serious secondary complications, such as iron overload, cholecystitis, pulmonary hypertension and extramedullary haematopoiesis. It is an autosomal...

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Detalles Bibliográficos
Autores principales: Grace, Rachael F, van Beers, Eduard J, Vives Corrons, Joan-Lluis, Glader, Bertil, Glenthøj, Andreas, Kanno, Hitoshi, Kuo, Kevin H M, Lander, Carl, Layton, D Mark, Pospíŝilová, Dagmar, Viprakasit, Vip, Li, Junlong, Yan, Yan, Boscoe, Audra N, Bowden, Chris, Bianchi, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10040033/
https://www.ncbi.nlm.nih.gov/pubmed/36958777
http://dx.doi.org/10.1136/bmjopen-2022-063605