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Bone mineral density in adult patients with pyruvate kinase deficiency on long-term mitapivat treatment

Haematologica (Roma), 2024-03, Vol.109 (3), p.963-967

2024

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Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III

Haematologica (Roma), 2023-02, Vol.108 (2), p.581-587

2023

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New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II

International journal of molecular sciences, 2023-06, Vol.24 (12), p.9935

2023

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Identification of Leptomeningeal Disease in Aggressive B-Cell Non-Hodgkin's Lymphoma: Improved Sensitivity of Flow Cytometry

Journal of clinical oncology, 2009-03, Vol.27 (9), p.1462-1469

2009

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Rabbit antithymocyte globulin versus horse antithymocyte globulin for treatment of acquired aplastic anemia: a retrospective analysis

Annals of hematology, 2015-06, Vol.94 (6), p.947-954

2015

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Missense variants in ALAS2 gene in five patients

International journal of laboratory hematology, 2019-02, Vol.41 (1), p.e5-e9

2019

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Women with Gaucher Disease

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

2024

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P1473: CLINICALLY RELEVANT HEMOGLOBIN RESPONSE IN ADULTS WITH PYRUVATE KINASE DEFICIENCY TREATED WITH MITAPIVAT – A SUB‐ANALYSIS OF THE ACTIVATE TRIAL

HemaSphere, 2023-08, Vol.7 (S3), p.e918756f-n/a

2023

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Synergistic Activity of Deguelin and Fludarabine in Cells from Chronic Lymphocytic Leukemia Patients and in the New Zealand Black Murine Model

PloS one, 2016-04, Vol.11 (4), p.e0154159

2016

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Early‐onset reduced bone mineral density in patients with pyruvate kinase deficiency

American journal of hematology, 2023-03, Vol.98 (3), p.E57-E60

2023

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Diagnostic screening of paroxysmal nocturnal hemoglobinuria: Prospective multicentric evaluation of the current medical indications

Cytometry. Part B, Clinical cytometry, 2017-09, Vol.92 (5), p.361-370

2017

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Erythroid SLC7A5/SLC3A2 amino acid carrier controls red blood cell size and maturation

iScience, 2023-01, Vol.26 (1), p.105739-105739, Article 105739

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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Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

Molecular genetics & genomic medicine, 2016-05, Vol.4 (3), p.273-282

2016

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Study of adult and pediatric patients with idiopathic splenomegaly and splenectomy: The PREDIGA study- PRoject for the Education and DIagnosis of Gaucher disease and Acid sphingomyelinase deficiency

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107966, Article 107966

2024

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Persistent thrombocytopenia in Gaucher disease (GD): A case report

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S72-S73

2021

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SARS-CoV-2 infection in patients with sickle cell disease

Medicina clinica, 2021-10, Vol.157 (7), p.345

2021

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Infección por SARS-CoV-2 en pacientes con enfermedad falciforme

Medicina clínica, 2021-10, Vol.157 (7), p.345-346

2021

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Infección por SARS-CoV-2 en pacientes con enfermedad falciforme

Medicina clínica, 2021-05, Vol.157 (7), p.345-346

2021

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Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107073, Article 107073

2023

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Pompe disease: PAS-positive lymphocyte vacuoles as diagnostic screening test

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S113-S113

2020

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Autosomal Recessive Congenital Dyserythropoietic Anemia Type III Is Caused By Mutations in the Centralspindlin RACGAP1 Component

Blood, 2021-11, Vol.138 (Supplement 1), p.847-847

2021

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SARS-CoV-2 infection in patients with sickle cell disease

Medicina clínica (English ed.), 2021-10, Vol.157 (7), p.345-346

2021

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Documento de consenso para el diagnóstico y tratamiento del déficit de piruvato quinasa

Medicina clínica, 2021-09, Vol.157 (5), p.253.e1-253.e8

2021

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Unexpected genetic findings in a Gaucher disease patient analysed by NGS-based panel sequencing

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S101-S101

2019

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Bone mineral density in adult patients with pyruvate kinase deficiency on long-term mitapivat treatment

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II

Identification of Leptomeningeal Disease in Aggressive B-Cell Non-Hodgkin's Lymphoma: Improved Sensitivity of Flow Cytometry

Rabbit antithymocyte globulin versus horse antithymocyte globulin for treatment of acquired aplastic anemia: a retrospective analysis

Missense variants in ALAS2 gene in five patients

Women with Gaucher Disease

P1473: CLINICALLY RELEVANT HEMOGLOBIN RESPONSE IN ADULTS WITH PYRUVATE KINASE DEFICIENCY TREATED WITH MITAPIVAT – A SUB‐ANALYSIS OF THE ACTIVATE TRIAL

Synergistic Activity of Deguelin and Fludarabine in Cells from Chronic Lymphocytic Leukemia Patients and in the New Zealand Black Murine Model

Early‐onset reduced bone mineral density in patients with pyruvate kinase deficiency

Diagnostic screening of paroxysmal nocturnal hemoglobinuria: Prospective multicentric evaluation of the current medical indications

Erythroid SLC7A5/SLC3A2 amino acid carrier controls red blood cell size and maturation

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

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

Study of adult and pediatric patients with idiopathic splenomegaly and splenectomy: The PREDIGA study- PRoject for the Education and DIagnosis of Gaucher disease and Acid sphingomyelinase deficiency

Persistent thrombocytopenia in Gaucher disease (GD): A case report

SARS-CoV-2 infection in patients with sickle cell disease

Infección por SARS-CoV-2 en pacientes con enfermedad falciforme

Infección por SARS-CoV-2 en pacientes con enfermedad falciforme

Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening

Pompe disease: PAS-positive lymphocyte vacuoles as diagnostic screening test

Autosomal Recessive Congenital Dyserythropoietic Anemia Type III Is Caused By Mutations in the Centralspindlin RACGAP1 Component

SARS-CoV-2 infection in patients with sickle cell disease

Documento de consenso para el diagnóstico y tratamiento del déficit de piruvato quinasa

Unexpected genetic findings in a Gaucher disease patient analysed by NGS-based panel sequencing

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