All Stories

  1. Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

    Article • European Journal of Medical Genetics, August 2024, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  2. Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

    Article • Orphanet Journal of Rare Diseases, August 2023, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  3. Subcutaneous anti-COVID-19 hyperimmune immunoglobulin for prevention of disease in asymptomatic individuals with SARS-CoV-2 infection: a double-blind, placebo-controlled, randomised clinical trial

    Article • EClinicalMedicine, March 2023, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  4. Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital

    Article • Blood Cells Molecules and Diseases, January 2023, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  5. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

    Article • Orphanet Journal of Rare Diseases, June 2022, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  6. Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1

    Article • Journal of Clinical Medicine, November 2021, MDPI AG

    MD, PhD Guillem PINTOS-MORELL

  7. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Article • Orphanet Journal of Rare Diseases, November 2021, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  8. Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up

    Article • Journal of Clinical Medicine, April 2021, MDPI AG

    MD, PhD Guillem PINTOS-MORELL

  9. Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus

    Article • Molecular Genetics and Metabolism, April 2021, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  10. Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders

    Article • Journal of Extracellular Vesicles, March 2021, Wiley

    MD, PhD Guillem PINTOS-MORELL

  11. Nanotechnology‐based approaches for treating lysosomal storage disorders, a focus on Fabry disease

    Article • Wiley Interdisciplinary Reviews Nanomedicine and Nanobiotechnology, December 2020, Wiley

    MD, PhD Guillem PINTOS-MORELL

  12. Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

    Article • Genes, November 2020, MDPI AG

    Darren Monckton, MD, PhD Guillem PINTOS-MORELL

  13. Three-dimensional imaging in myotonic dystrophy type 1

    Article • Neurology Genetics, July 2020, Wolters Kluwer Health

    MD, PhD Guillem PINTOS-MORELL

  14. The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

    Article • Genes, July 2020, MDPI AG

    MD, PhD Guillem PINTOS-MORELL

  15. Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age

    Article • Drug Design Development and Therapy, June 2020, Taylor & Francis

    MD, PhD Guillem PINTOS-MORELL

  16. Novel variants in the gene for pulmonary alveolar microlithiasis (PAM)

    Article • European Respiratory Journal, December 2019, European Respiratory Society (ERS)

    Guillem Pintos-Morell, Åsa Lina Jönsson, MD, PhD Guillem PINTOS-MORELL

  17. Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

    Article • Clinical Genetics, December 2019, Wiley

    MD, PhD Guillem PINTOS-MORELL, Daniel Grinberg

  18. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

    Article • Human Mutation, November 2019, Wiley

    MD, PhD Guillem PINTOS-MORELL, Darren Monckton

  19. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Article • Journal of Pharmaceutical and Biomedical Analysis, November 2019, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  20. Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis

    Article • Drug Design Development and Therapy, October 2019, Taylor & Francis

    Guillem Pintos-Morell, MD, PhD Guillem PINTOS-MORELL

  21. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Article • Medicine, September 2019, Wolters Kluwer Health

    MD, PhD Guillem PINTOS-MORELL

  22. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

    Article • Journal of Inherited Metabolic Disease, May 2019, Wiley

    MD, PhD Guillem PINTOS-MORELL

  23. Missense mutations have unexpected consequences: The McArdle disease paradigm

    Article • Human Mutation, July 2018, Wiley

    MD, PhD Guillem PINTOS-MORELL

  24. Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

    Article • Journal of Inherited Metabolic Disease, July 2018, Wiley

    MD, PhD Guillem PINTOS-MORELL

  25. Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

    Article • Journal of Inherited Metabolic Disease, June 2018, Wiley

    MD, PhD Guillem PINTOS-MORELL

  26. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

    Article • Molecular Genetics and Metabolism Reports, June 2018, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  27. Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

    Article • Molecular Genetics and Metabolism Reports, March 2018, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  28. Myotilinopathy unmasked by statin treatment: A case report

    Article • Muscle & Nerve, February 2018, Wiley

    MD, PhD Guillem PINTOS-MORELL

  29. Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

    Article • BMC Genomics, November 2017, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  30. Rare Neurodegenerative Diseases: Clinical and Genetic Update

    Article • January 2017, Springer Science + Business Media

    Jorge Sequeiros, MD, PhD Guillem PINTOS-MORELL

  31. Síndrome de Alagille asociado a atresia intestinal

    Article • Gastroenterología y Hepatología, December 2016, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  32. Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey

    Article • International Journal of Molecular Sciences, November 2016, MDPI AG

    MD, PhD Guillem PINTOS-MORELL

  33. Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

    Article • BMC Ophthalmology, November 2016, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  34. Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto

    Article • Nefrología, November 2016, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  35. A 15-Year Perspective of the Fabry Outcome Survey

    Article • Journal of Inborn Errors of Metabolism and Screening, September 2016, SAGE Publications

    MD, PhD Guillem PINTOS-MORELL

  36. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

    Article • Nature Communications, May 2016, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  37. Exercise and Preexercise Nutrition as Treatment for McArdle Disease

    Article • Medicine & Science in Sports & Exercise, April 2016, Wolters Kluwer Health

    MD, PhD Guillem PINTOS-MORELL

  38. Genes and exercise intolerance: insights from McArdle disease

    Article • Physiological Genomics, February 2016, American Physiological Society

    MD, PhD Guillem PINTOS-MORELL

  39. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

    Article • Brain, August 2015, Oxford University Press (OUP)

    MD MARIA SOFIA COTELLI, MD, PhD Guillem PINTOS-MORELL

  40. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Article • Journal of Inherited Metabolic Disease, June 2015, Wiley

    MD, PhD Guillem PINTOS-MORELL

  41. Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

    Article • Molecular Genetics and Metabolism Reports, June 2015, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  42. Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

    Article • Nefrología (English Edition), May 2015, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  43. Cistinosis en pacientes adolescentes y adultos: Recomendaciones para la atención integral de la cistinosis

    Article • Nefrología, May 2015, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  44. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Article • Journal of Inherited Metabolic Disease, April 2015, Wiley

    MD, PhD Guillem PINTOS-MORELL

  45. Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry

    Article • Clinica Chimica Acta, January 2015, Elsevier

    M.D. DANIEL G BICHET, MD, PhD Guillem PINTOS-MORELL

  46. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

    Article • Orphanet Journal of Rare Diseases, November 2014, Springer Science + Business Media

    Maria Silva, MD, PhD Guillem PINTOS-MORELL

  47. Alteraciones del metabolismo de las purinas y pirimidinas

    Article • January 2014, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  48. Guía de práctica clínica para el tratamiento del síndrome de Hunter

    Article • Medicina Clínica, November 2013, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  49. Fe de errores de «Enfermedad de Fabry: espectro clínico de los angioqueratomas»

    Article • Actas Dermo-Sifiliográficas, June 2013, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  50. The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

    Article • Molecular Genetics and Metabolism, May 2013, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  51. Fabry Disease and the Clinical Spectrum of Angiokeratomas

    Article • Actas Dermo-Sifiliográficas (English Edition), April 2013, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  52. Urinary levels of regenerating protein Iα do not differentiate celiac patients and healthy subjects

    Article • Biomarkers, January 2013, Taylor & Francis

    MD, PhD Guillem PINTOS-MORELL

  53. Recommendations for the management of tyrosinaemia type 1

    Article • Orphanet Journal of Rare Diseases, January 2013, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  54. Comparación de los pacientes de un registro español de enfermedad de Fabry en dos periodos de tiempo

    Article • Medicina Clínica, October 2012, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  55. Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

    Article • Molecular Genetics and Metabolism, June 2012, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  56. Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

    Article • Health and Quality of Life Outcomes, January 2012, Springer Science + Business Media

    Ms Mireia Raluy Callado, MD, PhD Guillem PINTOS-MORELL

  57. Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome

    Article • Pediatrics International, December 2011, Wiley

    MD, PhD Guillem PINTOS-MORELL

  58. Déficit de biotinidasa: las dos caras del cribado metabólico

    Article • Medicina Clínica, October 2011, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  59. Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease

    Article • European Journal of Echocardiography, August 2011, European Society of Cardiology

    MD, PhD Guillem PINTOS-MORELL

  60. Síndrome de Sotos: nueva mutación «sin sentido» del gen NSD1 que presenta cutis laxa neonatal

    Article • Anales de Pediatría, August 2011, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  61. Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS)

    Article • International Journal of Clinical Practice, June 2011, Wiley

    MD, PhD Guillem PINTOS-MORELL

  62. Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey

    Article • Clinical Genetics, April 2011, Wiley

    MD, PhD Guillem PINTOS-MORELL

  63. A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy

    Article • Human Mutation, January 2011, Wiley

    MD, PhD Guillem PINTOS-MORELL

  64. First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

    Article • European Journal of Medical Genetics, November 2010, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  65. Recomendaciones y manejo de la tirosinemia hereditaria Tipo I o Tirosinemia hepatorrenal

    Article • Anales de Pediatría, November 2010, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  66. Therapeutic goals in the treatment of Fabry disease

    Article • Genetics in Medicine, October 2010, Nature

    MD, PhD Guillem PINTOS-MORELL

  67. Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

    Article • Genetics in Medicine, October 2010, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  68. Management of Fabry Disease with Agalsidase Treatment

    Article • Clinical Medicine Insights Therapeutics, January 2010, SAGE Publications

    MD, PhD Guillem PINTOS-MORELL

  69. Disease pathogenesis – basic science

    Article • International Journal of Clinical Pharmacology and Therapeutics, December 2009, Dustri-Verlgag Dr. Karl Feistle

    MD, PhD Guillem PINTOS-MORELL

  70. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

    Article • Kidney International, December 2009, Elsevier

    prof alberto ortiz , MD, PhD Guillem PINTOS-MORELL

  71. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

    Article • Human Mutation, November 2009, Wiley

    Maria Silva, MD, PhD Guillem PINTOS-MORELL

  72. Corrigendum to “Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with a E158X BSCL2 mutation” [Eur. J. Med. Genet. 52 (1) (2009) 14–16]

    Article • European Journal of Medical Genetics, July 2009, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  73. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis

    Article • Nephrology Dialysis Transplantation, May 2009, Oxford University Press (OUP)

    prof alberto ortiz , MD, PhD Guillem PINTOS-MORELL

  74. Fabry disease in children and the effects of enzyme replacement treatment

    Article • European Journal of Pediatrics, February 2009, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  75. Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy

    Article • International Journal of Cardiology, February 2009, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  76. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

    Article • European Journal of Medical Genetics, January 2009, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  77. Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation

    Article • European Journal of Pediatrics, June 2008, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  78. 39 Hiperpotasemia transitoria en el curso de la glomerulonefritis aguda posestreptocócica

    Article • Anales de Pediatría, November 2007, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  79. Fabry disease and the skin: data from FOS, the Fabry outcome survey

    Article • British Journal of Dermatology, August 2007, Wiley

    MD, PhD Guillem PINTOS-MORELL

  80. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

    Article • Acta Paediatrica, January 2007, Wiley

    MD, PhD Guillem PINTOS-MORELL

  81. Enfermedad de Fabry en España: primer análisis de la respuesta al tratamiento de sustitución enzimática

    Article • Medicina Clínica, October 2006, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  82. Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey

    Article • International Journal of Clinical Practice, August 2006, Wiley

    MD, PhD Guillem PINTOS-MORELL

  83. Eating disorder in a patient with phenotypical features of Lujan???Fryns syndrome

    Article • Clinical Dysmorphology, July 2006, Wolters Kluwer Health

    MD, PhD Guillem PINTOS-MORELL

  84. Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey

    Article • Acta Paediatrica, January 2006, Wiley

    MD, PhD Guillem PINTOS-MORELL

  85. Cistinosis: acumulación de cistina por defecto de transporte translisosomal

    Article • Medicina Clínica, June 2004, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  86. De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene

    Article • Human Genetics, February 1995, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  87. Molybdenum cofactor deficiency associated with Dandy-Walker malformation

    Article • Journal of Inherited Metabolic Disease, January 1995, Wiley

    MD, PhD Guillem PINTOS-MORELL

  88. Altered Leukotriene Generation in Leukocytes from Cystinotic Children

    Article • Pediatric Research, November 1994, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  89. Anti-neutrophil cytoplasmic auto-antibodies-associated vasculitis with pulmonary and renal involvement

    Article • European Journal of Pediatrics, June 1993, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  90. Increased serum tumour necrosis factor during transient remission in acute leukaemia

    Article • The Lancet, June 1993, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  91. Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head

    Article • Acta Paediatrica, March 1993, Wiley

    MD, PhD Guillem PINTOS-MORELL

  92. Increased monocyte-dependent suppression of polyclonal activation of B lymphocytes from cystinotic children

    Article • Pediatric Nephrology, January 1991, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  93. Some questions about the transtubular potassium concentration gradient

    Article • Pediatric Nephrology, January 1991, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL

  94. Cytochrome c Oxidase Deficiency in Muscle With Dicarboxylic Aciduria and Renal Tubular Acidosis

    Article • Journal of Child Neurology, April 1990, SAGE Publications

    MD, PhD Guillem PINTOS-MORELL

  95. Paf-acether (platelet-activating factor) and interleukin-1-like cytokine production by lipopolysaccharide-stimulated glomeruli

    Article • Clinical Immunology and Immunopathology, March 1988, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  96. Renal anaphylaxis. I. Antigen-initiated responses from isolated perfused rat kidney

    Article • Kidney International, August 1987, Elsevier

    MD, PhD Guillem PINTOS-MORELL

  97. Altered Oxidative Metabolism, Motility, and Adherence in Phagocytic Cells from Cystinotic Children

    Article • Pediatric Research, December 1985, Springer Science + Business Media

    MD, PhD Guillem PINTOS-MORELL