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Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.256-256, Article 256

2020

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Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease

International journal of molecular sciences, 2022-09, Vol.23 (18), p.10387

2022

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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

Orphanet journal of rare diseases, 2024-06, Vol.19 (1), p.244-9, Article 244

2024

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Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project

Orphanet journal of rare diseases, 2023-12, Vol.18 (1), p.390-390, Article 390

2023

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P1651: IMPACT OF NEUTROPHIL EXTRACELLULAR TRAPS (NETS) AND MACROPHAGE ACTIVATION IN THE THROMBOTIC EVENTS IN COVID‐19 PATIENTS

HemaSphere, 2023-08, Vol.7 (S3), p.e192464f-n/a

2023

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New variants in Spanish Niemann–Pick type c disease patients

Molecular biology reports, 2020-03, Vol.47 (3), p.2085-2095

2020

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Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease

Journal of orthopaedic surgery and research, 2019-11, Vol.14 (1), p.383-383, Article 383

2019

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Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C

Frontiers in physiology, 2017-01, Vol.8, p.39-39

2017

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Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients

Medicina clinica, 2020-12, Vol.155 (12), p.529-534

2020

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Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency

Expert opinion on orphan drugs, 2022-12, Vol.10 (1), p.11-21

2022

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LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population

Clinical chemistry and laboratory medicine, 2020-05, Vol.58 (5), p.798-809

2020

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Serum protein profile analysis in lysosomal storage disorders patients

Clinica chimica acta, 2020-11, Vol.510, p.430-436

2020

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RETIRADO: Enfermedad de Niemann-Pick tipo C de inicio neonatal asociada a COVID-19

Anales de pediatría (Barcelona, Spain : 2003), 2021-03

2021

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The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases

Clinica chimica acta, 2018-05, Vol.480, p.161-165

2018

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Biomarker combination is necessary for the assessment of Gaucher disease?

Annals of translational medicine, 2018-11, Vol.6 (Suppl 1), p.S81-S81

2018

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Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients

Archives of medical research, 2021-10, Vol.52 (7), p.731-737

2021

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Neonatal-onset Niemann-Pick type C disease with COVID-19 infection

Anales de Pediatría, 2021-03

2021

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Web-Based Bioinformatics Predictors: Recommendations to Assess Lysosomal Cholesterol Trafficking Diseases-Related Genes

Methods of information in medicine, 2019-06, Vol.58 (1), p.50-59

2019

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Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies?

Blood cells, molecules, & diseases, 2020-11, Vol.85, p.102478-102478, Article 102478

2020

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New mitogens in cultures for multiple myeloma cytogenetic analysis

Leukemia & lymphoma, 2013-11, Vol.54 (11), p.2548-2550

2013

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Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously

Clinical case reports, 2018-05, Vol.6 (5), p.887-892

2018

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Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree?

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108038, Article 108038

2024

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Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107314, Article 107314

2023

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Use of wearable sensor technology to identify digital biomarkers for monitoring gait parameters in children and adolescents with GM1 and GM2 gangliosidoses

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107959, Article 107959

2024

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Study of neutrophil extracellular traps (NETs) in the development of thrombotic complications in Fabry disease patients

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S111-S111

2022

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Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease

Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease

Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project

P1651: IMPACT OF NEUTROPHIL EXTRACELLULAR TRAPS (NETS) AND MACROPHAGE ACTIVATION IN THE THROMBOTIC EVENTS IN COVID‐19 PATIENTS

New variants in Spanish Niemann–Pick type c disease patients

Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease

Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C

Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients

Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency

LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population

Serum protein profile analysis in lysosomal storage disorders patients

RETIRADO: Enfermedad de Niemann-Pick tipo C de inicio neonatal asociada a COVID-19

The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases

Biomarker combination is necessary for the assessment of Gaucher disease?

Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients

Neonatal-onset Niemann-Pick type C disease with COVID-19 infection

Web-Based Bioinformatics Predictors: Recommendations to Assess Lysosomal Cholesterol Trafficking Diseases-Related Genes

Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies?

New mitogens in cultures for multiple myeloma cytogenetic analysis

Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously

Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree?

Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease

Use of wearable sensor technology to identify digital biomarkers for monitoring gait parameters in children and adolescents with GM1 and GM2 gangliosidoses

Study of neutrophil extracellular traps (NETs) in the development of thrombotic complications in Fabry disease patients

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