María Del Mar Meijón Ortigueira

Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease

María Domínguez-Ruiz, Juan Luis Chico‐García, Laura López‐Marín, Sinziana Stanescu et autres

Background/Objectives: Krabbe disease (KD) is a hereditary lysosomal disorder whose hallmark is progressive demyelination, with variable involvement of the central nervous system. It is caused by pathogenic variants in the GALC gene that disrupt the function of its gene product, the lysosomal …

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Predicting joint involvement through tailored prophylaxis in severe haemophilia A, is it possible?

María Del Mar Meijón Ortigueira, María Teresa Álvarez Román, Hortensia de la Corte, Nora V. Butta et autres

INTRODUCTION: Tailored prophylaxis is the current treatment regimen for patients with severe haemophilia A. Recently, published guidelines describe two possible approaches, based on clinical characteristics or estimation of pharmacokinetic parameters. However, both have strengths and weaknesses, and their characteristics need to be …

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Women with Gaucher Disease

María Del Mar Meijón Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu et autres

Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life …

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Long-term impact of primary prophylaxis on joint status in patients with severe hemophilia A

María Del Mar Meijón Ortigueira, María Teresa Álvarez Román, Hortensia de la Corte Rodríguez, Víctor Jiménez‐Yuste

Background: Primary prophylaxis with factor VIII concentrates is the therapeutic gold standard for severe hemophilia A. Although this approach will change substantially with the use of nonsubstitutive therapies, the long-term effects of primary prophylaxis remain unclear. We present information on joint health …

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Vaccine-induced immune thrombotic thrombocytopenia after the BNT162b2 mRNA Covid-19 vaccine: A case study

Carmen Rodríguez, Alberto Pérez, María Del Mar Meijón Ortigueira, Pilar Llamas et autres

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