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Women with Gaucher Disease

Biomedicines, 2024-03, Vol.12 (3), p.579

2024

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Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera

Scientific reports, 2021-01, Vol.11 (1), p.209-209, Article 209

2021

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Ecological study to determine the estimated prevalence of patients with acid sphingomyelinase deficiency in Spain: PREVASMD study

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107347, Article 107347

Villarrubia, Jesus

2023

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Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

JIMD reports, 2020-01, Vol.51 (1), p.53-61

2020

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A reappraisal of Gaucher disease—diagnosis and disease management algorithms

American journal of hematology, 2011-01, Vol.86 (1), p.110-115

2011

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Bone marrow infiltration by flow cytometry at diffuse large B‐cell lymphoma NOS diagnosis implies worse prognosis without considering bone marrow histology

Cytometry. Part B, Clinical cytometry, 2020-11, Vol.98 (6), p.525-528

2020

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Indolent Systemic Mast Cell Disease in Adults: Immunophenotypic Characterization of Bone Marrow Mast Cells and Its Diagnostic Implications

Blood, 1998-04, Vol.91 (8), p.2731-2736

1998

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Leprosy diagnosed by bone marrow aspiration

British journal of haematology, 2013-01, Vol.160 (2), p.121-121

2013

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Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Orphanet journal of rare diseases, 2023-12, Vol.18 (1), p.1-378, Article 378

2023

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Myelomatous pleural effusion with plasmablastic morphology and high genetic complexity as isolated extramedullary relapse

Annals of hematology, 2020-11, Vol.99 (11), p.2705-2706

2020

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Deferasirox nephrotoxicity-the knowns and unknowns

Nature reviews. Nephrology, 2014-10, Vol.10 (10), p.574

2014

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Skin lesions and cytological features in HTLV‐1 associated adult T‐cell leukaemia/lymphoma

British journal of haematology, 2017-05, Vol.177 (4), p.507-507

2017

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Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists

Blood, 2008-11, Vol.112 (11), p.4648-4648

2008

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P1483: LONG‐TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY

HemaSphere, 2023-08, Vol.7 (S3), p.e18031f6-n/a

2023

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Cryofibrinogenaemia in a patient with multiple myeloma and necrotizing vasculitis

British journal of haematology, 2015-10, Vol.171 (2), p.153-153

2015

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Adult acid sphingomyelinase deficiency (Niemann-Pick disease type B): A difficult pathway to a diagnosis in 4 novel cases

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S125-S125

2022

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NGS-based panel screening of suspected lysosomal disease cases identifies novel pathogenic variants underlying acid sphingomyelinase deficiency (ASMD), Krabbe disease, and lymphatic dysplasia with non-immune hydrops fetalis

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S36-S36

2022

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Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia

Journal of clinical pathology, 2016-02, Vol.69 (2), p.149-154

2016

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δβ-Thalassemia trait: how can we discriminate it from β-thalassemia trait and iron deficiency anemia?

American journal of clinical pathology, 2014-10, Vol.142 (4), p.567-573

2014

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Identification of the missing causative mutations in monoallelic cases of late-onset Pompe disease (LOPD)

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S60-S60

2020

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

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S156-S156

2020

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Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S36-S36

2022

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Dehydrated red blood cells in a peripheral blood film: a case of hereditary xerocytosis

British journal of haematology, 2014-08, Vol.166 (3), p.309-309

2014

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Gaucher disease and myelodysplastic syndrome with isolated del(5q)

British journal of haematology, 2014-04, Vol.165 (2), p.164-164

2014

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Women with Gaucher Disease

Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera

Ecological study to determine the estimated prevalence of patients with acid sphingomyelinase deficiency in Spain: PREVASMD study

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

A reappraisal of Gaucher disease—diagnosis and disease management algorithms

Bone marrow infiltration by flow cytometry at diffuse large B‐cell lymphoma NOS diagnosis implies worse prognosis without considering bone marrow histology

Indolent Systemic Mast Cell Disease in Adults: Immunophenotypic Characterization of Bone Marrow Mast Cells and Its Diagnostic Implications

Leprosy diagnosed by bone marrow aspiration

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Myelomatous pleural effusion with plasmablastic morphology and high genetic complexity as isolated extramedullary relapse

Deferasirox nephrotoxicity-the knowns and unknowns

Interobserver variance in myelodysplastic syndromes with less than 5 % bone marrow blasts: unilineage vs. multilineage dysplasia and reproducibility of the threshold of 2 % blasts

Skin lesions and cytological features in HTLV‐1 associated adult T‐cell leukaemia/lymphoma

Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists

P1483: LONG‐TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY

Cryofibrinogenaemia in a patient with multiple myeloma and necrotizing vasculitis

Adult acid sphingomyelinase deficiency (Niemann-Pick disease type B): A difficult pathway to a diagnosis in 4 novel cases

NGS-based panel screening of suspected lysosomal disease cases identifies novel pathogenic variants underlying acid sphingomyelinase deficiency (ASMD), Krabbe disease, and lymphatic dysplasia with non-immune hydrops fetalis

Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia

δβ-Thalassemia trait: how can we discriminate it from β-thalassemia trait and iron deficiency anemia?

Identification of the missing causative mutations in monoallelic cases of late-onset Pompe disease (LOPD)

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

Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels

Dehydrated red blood cells in a peripheral blood film: a case of hereditary xerocytosis

Gaucher disease and myelodysplastic syndrome with isolated del(5q)

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