Works matching IS 17501172 AND DT 2025 AND VI 20 AND IP 1

Results: 226
    1

    Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03755-8
    By:
    • Rossi, Alice;
    • Pancaldi, Chiara;
    • Regazzi, Maria Giulia;
    • Agnelli, Giulio;
    • Assirelli, Valentina;
    • Barbato, Antonio;
    • Baronio, Federico;
    • Benso, Andrea;
    • Bernabei, Silvia Maria;
    • Biasucci, Giacomo;
    • Botti, Mara;
    • Bonfanti, Cristina;
    • Bordugo, Andrea;
    • Bruni, Giulia;
    • Burlina, Alberto;
    • Candela, Egidio;
    • Carbone, Maria Teresa;
    • Carella, Rosa;
    • Carubbi, Francesca;
    • Cianflone, Annalia
    Publication type:
    Article
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    Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03717-0
    By:
    • Fauroux, Brigitte;
    • AlSayed, Moeenaldeen;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Boon, Mieke;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Irving, Melita;
    • Kunkel, Philip;
    • Madureira, Núria;
    • Maghnie, Mohamad;
    • Milerad, Josef;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Nobili, Lino;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.
    Publication type:
    Article
    11

    TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03692-6
    By:
    • Saier, Christina;
    • Sansen, Stefaan;
    • Berghout, Joanne;
    • Freyler, Kathrin;
    • Einhorn, Moshe;
    • Einhorn, Yaron;
    • Matalonga, Leslie;
    • Beltran, Sergi;
    • Novelli, Antonio;
    • Selvatici, Rita;
    • Fortunato, Fernanda;
    • Montanari, Silvia;
    • Martinez-Fresno, Maria;
    • Gumus, Gulcin;
    • Agolini, Emanuele;
    • Garnier, Nicolas;
    • Ferlini, Alessandra;
    • Bertini, Enrico;
    • Kirschner, Janbernd
    Publication type:
    Article
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    European Reference Network (ERN) ReCONNET methodology for the cross-cultural adaptation of instruments for research and care in the context of rare connective tissue diseases (CROSSADAPT).

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03674-8
    By:
    • Arnaud, Laurent;
    • Sander, Oliver;
    • Rednic, Simona;
    • Mertz, Philippe;
    • Faria, Raquel;
    • Crisafulli, Francesca;
    • Silva-Ribeiro, Sofia;
    • Kawka, Lou;
    • Sztejkowski, Cedric;
    • Düsing, Christina;
    • Rose, Thomas;
    • Lamas, Antonio;
    • Vasconcelos, Carlos;
    • Fontana, Giulia;
    • Semeraro, Paolo;
    • Neagu, Teodora;
    • Resteu, Mihaela;
    • Damian, Laura;
    • Pamfil, Cristina;
    • Bucsa, Camelia
    Publication type:
    Article
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    Age-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03758-5
    By:
    • Caro-Rivera, Lourdes Marinna;
    • Malavez-Cajigas, Sonya;
    • Lacourt-Ventura, Mercedes;
    • Rivera-Torres, Andrea P.;
    • Marcano-Jiménez, Dorca E.;
    • López-Colon, Pablo;
    • Muñiz-Hernández, José;
    • Rivera-Jiménez, Enid;
    • Egozcue-Dionisi, Mónica;
    • Román-Carlo, Rosa;
    • De Jesús-Rojas, Wilfredo;
    • Ramos-Benítez, Marcos J.
    Publication type:
    Article
    16

    Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03747-8
    By:
    • Mole, Sara E.;
    • Gissen, Paul;
    • Nordstrom, Shannon;
    • Wait, Suzanne;
    • Allen, Louise;
    • Antonini, Mathilda;
    • Brownnutt, Liz;
    • Brown, Richard;
    • Cole, Barbara;
    • Gibbon, Frances;
    • Henderson, Robert H.;
    • Kenrick, Sarah;
    • Sisic, Zlatko;
    • Thompson, Bob;
    • Nightingale, Joanna
    Publication type:
    Article
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    The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03742-z
    By:
    • Mancuso, Michelangelo;
    • Colitta, Alessandro;
    • Lavorato, Manuela;
    • Van den Bergh, Peter;
    • Kirschner, Janbernd;
    • Kornblum, Cornelia;
    • Maggi, Lorenzo;
    • Lamy, Francois;
    • Lochmüller, Hanns;
    • Nordstrøm, Marianne;
    • Malfatti, Edoardo;
    • Ferlini, Alessandra;
    • Pareyson, Davide;
    • Silani, Vincenzo;
    • Kleopa, Kleopas A;
    • de Visser, Marianne;
    • Atalaia, Antonio;
    • Evangelista, Teresinha
    Publication type:
    Article
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    Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03694-4
    By:
    • Stepien, Karolina M.;
    • Thomas, Sophie;
    • Hennermann, Julia B.;
    • Lampe, Christina;
    • Muschol, Nicole M.;
    • Ballesta-Martínez, Maria Juliana;
    • Cruz, Jordi;
    • López-Rodríguez, Mónica;
    • Barth, Anneliese;
    • Magner, Martin;
    • Lund, Allan M.;
    • Plaiasu, Vasilica;
    • Ballabeni, Andrea;
    • Donà, Francesca;
    • Morgan, Heather M.;
    • Guffon, Nathalie
    Publication type:
    Article
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    Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03495-1
    By:
    • Driedger, Jan H.;
    • Schröter, Julian;
    • Hertzberg, Christoph;
    • Weschke, Bernhard;
    • Kaindl, Angela M.;
    • Lücke, Thomas;
    • Thiels, Charlotte;
    • Klotz, Kerstin Alexandra;
    • Fazeli, Walid;
    • Rostásy, Kevin;
    • Wiethoff-Ubrig, Lucia;
    • Kaiser, Olaf;
    • Trollmann, Regina;
    • Mammadova, Dilbar;
    • Schubert-Bast, Susanne;
    • Bach, Alexia;
    • Eckenweiler, Matthias;
    • Schönberger, Jan;
    • Martakis, Kyriakos;
    • Hahn, Andreas
    Publication type:
    Article
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    Alström syndrome: the journey to diagnosis.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03509-y
    By:
    • Sinha, Akshat;
    • Leeson-Beevers, Kerry;
    • Lewis, Catherine;
    • Loughery, Elizabeth;
    • Geberhiwot, Tarekegn
    Publication type:
    Article
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    Perspectives on the current diagnostic and treatment paradigms in secondary hemophagocytic lymphohistiocytosis (HLH).

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03698-0
    By:
    • Naymagon, Leonard;
    • Roehrs, Philip;
    • Hermiston, Michelle;
    • Connelly, James;
    • Bednarski, Jeffrey;
    • Boelens, Jaap-Jan;
    • Chandrakasan, Shanmuganathan;
    • Dávila Saldaña, Blachy;
    • Henry, Michael M.;
    • Satwani, Prakash;
    • Ray, Anish;
    • Walkovich, Kelly;
    • Teachey, David;
    • Behrens, Edward M.;
    • Canna, Scott W.;
    • Kumar, Ashish
    Publication type:
    Article
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    Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03706-3
    By:
    • Bessis, Didier;
    • Vidaud, Dominique;
    • Meyer, Pierre;
    • Pacot, Laurence;
    • G, de La Villeon;
    • Bonnard, Adeline Alice;
    • Capri, Yline;
    • Coubes, Christine;
    • Herman, Fanchon;
    • Lacombe, Didier;
    • Molinari, Nicolas;
    • Poujade, Laura;
    • Roubertie, Agathe;
    • Van Gils, Julien;
    • Verloes, Alain;
    • Geneviève, David;
    • Cavé, Hélène;
    • Willems, Marjolaine
    Publication type:
    Article
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    Analysis of genomic ancestry and characterization of a new variant in MPS type VII.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03593-8
    By:
    • da Costa, Andreza Juliana Moreira;
    • de Souza, Isabel Cristina Neves;
    • Feio, Raimunda Helena;
    • Viana, Laurent Ketlen Leão;
    • Cisz, Mislene;
    • Rafaelli, Célio Luiz;
    • Trapp, Franciele Barbosa;
    • Burin, Maira Graeff;
    • Michelin-Tirelli, Kristiane;
    • Brusius-Facchin, Ana Carolina;
    • Netto, Alice Brinckmann Oliveira;
    • Khayat, André Salim;
    • dos Santos, Ney Pereira Carneiro;
    • Giugliani, Roberto;
    • Santana-da-Silva, Luiz Carlos
    Publication type:
    Article
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