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1.
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8 p, 1.3 MB |
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
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Rovira-Remisa, M. Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Moreira, Mónica (Universitat Autònoma de Barcelona) ;
Ventura-Wichner, Paula S (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Gonzalez-Alvarez, Pablo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Mestres, Núria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Graterol Torres, Fredzzia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Joaquín, Clara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Roche, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ibáñez-Micó, Salvador (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
López-Laso, Eduardo (Instituto Maimónides de Investigación Biomédica de Córdoba) ;
Méndez-Hernández, María Jesús (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Murillo-Vallés, Marta (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Monlleó-Neila, Laura (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Maqueda-Castellote, Elena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Del Toro, Mireia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Giralt López, Maria (Universitat Autònoma de Barcelona) ;
Cortès-Saladelafont, Elisenda (Universitat Autònoma de Barcelona)
The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with challenging patient care needs. [...]
2023 -  10.1016/j.ymgmr.2023.100962
Molecular Genetics and Metabolism Reports, Vol. 35 (march 2023) , p. 100962
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2.
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11 p, 1.1 MB |
Characteristic retinal atrophy pattern allows differentiation between pediatric MOGAD and MS after a single optic neuritis episode
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Pakeerathan, T. (Ruhr-University Bochum) ;
Havla, Joachim (Ludwig-Maximilians-Universität München) ;
Schwake, C. (Ruhr-University Bochum) ;
Salmen, A. (University of Bern. Department of Neurology, Inselspital, Bern University Hospital) ;
Bigi, S. (University of Bern) ;
Abegg, M. (University of Bern) ;
Brügger, D. (University of Bern) ;
Ferrazzini, T. (University of Bern) ;
Runge, A.-K. (University of Bern) ;
Breu, Markus (Medical University of Vienna) ;
Kornek, B. (Medical University of Vienna) ;
Bsteh, G. (Medical University of Vienna) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron) ;
Ringelstein, M. (Heinrich-Heine-University Düsseldorf) ;
Aktas, Orhan (Heinrich-Heine-University Düsseldorf) ;
Karenfort, M. (Heinrich-Heine-University Düsseldorf) ;
Wendel, E. (Olgahospital) ;
Kleiter, I. (Marianne-Strauß-Klinik) ;
Hellwig, K. (Ruhr-University Bochum. Department of Neurology, St. Josef-Hospital) ;
Kümpfel, Tania (Ludwig-Maximilians-Universität München) ;
Thiels, C. (Ruhr-University) ;
Lücke, T. (Ruhr-University) ;
Gold, R. (Ruhr-University Bochum) ;
Rostasy, K. (University Witten/Herdecke) ;
Ayzenberg, I. (Ruhr-University Bochum) ;
Universitat Autònoma de Barcelona
Optic neuritis (ON) is the most prevalent manifestation of pediatric multiple sclerosis (MS ped) and myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD ped) in children > 6 years. [...]
2022 - 10.1007/s00415-022-11256-y
Journal of Neurology, Vol. 269 (july 2022) , p. 6366-6376
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3.
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10 p, 1.7 MB |
Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD : how much retina do you really need to see well?
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Havla, Joachim (Ludwig-Maximilians-Universität München) ;
Pakeerathan, Thivya (Ruhr-University Bochum) ;
Schwake, Carolin (Ruhr-University Bochum) ;
Bennett, Jeffrey L. (University of Colorado Anschutz Medical Campu) ;
Kleiter, Ingo (Marianne-Strauß-Klinik) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Joachim, Stephanie C. (Ruhr-University Bochum) ;
Lotz-Havla, Amelie S. (Ludwig-Maximilians-Universität München) ;
Kümpfel, Tania (Ludwig-Maximilians-Universität München) ;
Krumbholz, Markus (University Hospital of Tübingen (Alemanya)) ;
Wendel, Eva M. (Olgaspital Stuttgart) ;
Reindl, Markus (Medical University of Innsbruck) ;
Thiels, Charlotte (Ruhr-University) ;
Lücke, Thomas (Ruhr-University) ;
Hellwig, Kerstin (Ruhr-University Bochum) ;
Gold, Ralf (Ruhr-University Bochum) ;
Rostasy, Kevin (University Witten/Herdecke) ;
Ayzenberg, Ilya (Sechenov First Moscow State Medical University) ;
Universitat Autònoma de Barcelona
To investigate age-related severity, patterns of retinal structural damage, and functional visual recovery in pediatric and adult cohorts of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) optic neuritis (ON). [...]
2021 - 10.1186/s12974-021-02160-9
Journal of neuroinflammation, Vol. 18 (may 2021)
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4.
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6 p, 432.3 KB |
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
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Serrano, Natalia Lourdes (Hospital Garrahan) ;
De Diego, Victor (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cuadras, Daniel (Fundació Sant Joan de Déu) ;
Martinez Monseny, Antonio F. (Hospital Sant Joan de Déu (Manresa)) ;
Velázquez-Fragua, Ramón (Hospital Universitario La Paz (Madrid)) ;
López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Serrano, Mercedes (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Universitat Autònoma de Barcelona
We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. [...]
2017 - 10.1186/s13023-017-0707-0
Orphanet Journal of Rare Diseases, Vol. 12 (september 2017)
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9 p, 799.8 KB |
Phosphomannomutase deficiency (PMM2-CDG) : ataxia and cerebellar assessment
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Serrano, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
De Diego, Victor (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Muchart, Jordi (Institut de Recerca Sant Joan de Déu) ;
Cuadras, Daniel (Statistics Department, Fundació Sant Joan de Déu) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Velázquez-Fragua, Ramón (Hospital Universitario La Paz (Madrid)) ;
Poo, M. Pilar (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Fons, Carmen (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
O'Callaghan, Maria del Mar (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Boix, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Robles, Bernabé (Hospital Sant Joan de Déu (Manresa)) ;
Carratalá, Francisco (Neurology Department, Hospital Sant Joan d'Alacant) ;
Girós, Marisa (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Briones, Paz (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Gort, Laura (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Artuch, R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pérez-Cerdá, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Jaeken, Jaak (Center for Metabolic Disease, KULeuven) ;
Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona ;
Vall d'Hebron Institut de Recerca (VHIR)
Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. [...]
2015 - 10.1186/s13023-015-0358-y
Orphanet Journal of Rare Diseases, Vol. 10 (october 2015)
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