Guillem Pintos‐Morell

Hebron University — PS

Medicine · Health Sciences

32h-index4.3kcitations181works2.42yr avg
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Research Topics

Lysosomal Storage Disorders Research(65), Glycogen Storage Diseases and Myoclonus(24), Trypanosoma species research and implications(22), Metabolism and Genetic Disorders(20), Biomedical Research and Pathophysiology(20)

Publications180 total

Human, economic, and social impact of lysosomal storage diseases
Orphanet Journal of Rare Diseases·2025Open Access
Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey
European Journal of Clinical Investigation·2025Open Access
Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single‐Centre Cohort
European Journal of Neurology·2025Open Access
Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review
Journal of Clinical Medicine·2025· 5 citedOpen Access
Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy
Molecular Genetics and Metabolism Reports·2025· 4 citedOpen Access
Teaching talk moves to support the discussion of divisibility content in a trilingual classroom
The Mathematics Enthusiast·2025Open Access
Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys
Orphanet Journal of Rare Diseases·2025· 2 citedOpen Access
Could the microbiota contribute to the symptomatology of Sanfilippo syndrome? A report in two affected siblings
Molecular Genetics and Metabolism·2025
Individual and health-care system socioeconomic impact of lysosomal disorders in Spain
Molecular Genetics and Metabolism·2025
Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases
Life·2025· 7 citedOpen Access
EE413 Humanistic, Economic, and Social Impact of Lysosomal Storage Disorders in Spain
Value in Health·2024Open Access
Special issue on Fabry disease - book 1: editorial
Rare Disease and Orphan Drugs Journal·2024Open Access
The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings
International Journal of Molecular Sciences·2024· 1 citedOpen Access
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee
European Journal of Medical Genetics·2024· 15 citedOpen Access
Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative
Rare Disease and Orphan Drugs Journal·2024· 4 citedOpen Access
ESTUDIO DE LA CALIDAD DE LA ENSEÑANZA DE CONTENIDOS DE DIVISIBILIDAD EN UN AULA TRILINGÜE DE SECUNDARIA
SPIRE - Sciences Po Institutional REpository·2024Open Access
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders·2023· 7 cited
Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement
Orphanet Journal of Rare Diseases·2023· 8 citedOpen Access
Early initiation of agalsidase alfa treatment improves clinical outcomes in male patients with classical Fabry disease: A Fabry Outcome Survey (FOS) analysis
Molecular Genetics and Metabolism·2023· 2 cited
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital
Blood Cells Molecules and Diseases·2022· 1 cited
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Frequent Co-authors

Uma Ramaswami(13), Michael Beck(12), Rossella Parini(10), Christoph Kampmann(7), Michael L. West(7), Atul Mehta(6), María L. Couce(5), Derralynn Hughes(5), Roser Torrá(5), Kathy Nicholls(5), Catharina Whybra(4), Juan Antonio Camacho(4), Roberto Giugliani(4), Gisela Nogales‐Gadea(4), J Coll(4), Alejandro Lucía(4), Gema Ariceta(4), Carlo Dionisi‐Vici(3), Gere Sunder‐Plassmann(3), Luis Peña Quintana(3)