Laura Frutos-De
Zaragoza, AR 50006, Spain
Last Updated: 09/26/2026
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Found 21 publications
The RAINBOW study: a phase 2 trial evaluating the 3-month pharmacokinetic and pharmacodynamic data and 18-month clinical and safety outcomes of nizubaglustat in GM2 gangliosidoses or Niemann-Pick type C disease.
Journal: Molecular genetics and metabolism
Published: January 30, 2026
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
Journal: International journal of molecular sciences
Published: August 03, 2025
Expression Profiles of Exosomal miRNAs in Gaucher Patients and Their Association With Severity of Bone Involvement.
Journal: Journal of inherited metabolic disease
Published: December 20, 2024
Neutrophil extracellular traps and macrophage activation contibute to thrombosis and post-covid syndrome in SARS-CoV-2 infection.
Journal: Frontiers in immunology
Published: October 07, 2024
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
Journal: Orphanet journal of rare diseases
Published: April 18, 2023
Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease.
Journal: International journal of molecular sciences
Published: August 01, 2022
Metabolizing profile of the cytochrome pathway CYP2D6, CYP3A4 and the ABCB 1 transporter in Spanish patients affected by Gaucher disease.
Journal: Chemico-biological interactions
Published: January 24, 2021
Neonatal-onset Niemann-Pick type C disease with COVID-19 infection
Journal: Anales de pediatria
Published: January 21, 2021
Neonatal cholestasis and Niemann-pick type C disease: A literature review.
Journal: Clinics and research in hepatology and gastroenterology
Published: September 08, 2020
Serum protein profile analysis in lysosomal storage disorders patients.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 11, 2020
Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients.
Journal: Medicina clinica
Published: October 22, 2019
Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease.
Journal: Journal of orthopaedic surgery and research
Published: September 22, 2019
Last Updated: 09/26/2026