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Jesús Villarrubia

University of Alcalá

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Adults with chronic acid sphingomyelinase deficiency show significant visceral, pulmonary, and hematologic improvements after enzyme replacement therapy with olipudase-alfa: 1-year results of the ASCEND placebo-controlled trial

2021 Molecular Genetics and Metabolism
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Secondary haemophagocytic lymphohistiocytosis in COVID-19: correlation of the autopsy findings of bone marrow haemophagocytosis with HScore.

2021 Journal of Clinical Pathology
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PREDIGA project: Preliminary results of the Spanish multicenter epidemiological and medical education project in acid sphingomyelinase deficiency disease (ASMD) and Gaucher disease (GD)

2021 Molecular Genetics and Metabolism
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Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera.

2021 Scientific Reports
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One-year results of the placebo-controlled ASCEND trial of olipudase alfa enzyme replacement therapy in adults with chronic acid sphingomyelinase deficiency

2021 Molecular Genetics and Metabolism
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Myelomatous pleural effusion with plasmablastic morphology and high genetic complexity as isolated extramedullary relapse.

2020 Annals of Hematology
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Diagnosis of 4 novel cases of adult acid sphyngomielynase deficiency by screening with next-generation sequencing gene panels

2020 Molecular Genetics and Metabolism
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Identification of the missing causative mutations in monoallelic cases of late-onset Pompe disease (LOPD)

2020 Molecular Genetics and Metabolism
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Prognosis of Acute Myeloid Leukemia with Myelodysplasia-Related Changes According to the Different Subgroups of the WHO 2016 Classification in Patients Candidates to Intensive Chemotherapy

2020 Blood
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Efficiency of NGS-based gene panels as first-line screening tests for the diagnosis of lysosomal diseases

2020 Molecular Genetics and Metabolism
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