Works matching IS 17501172 AND DT 2024 AND VI 19 AND IP 1

Results: 425
    1

    PHARC syndrome: an overview.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03418-0
    By:
    • Harutyunyan, Lusine;
    • Callaerts, Patrick;
    • Vermeer, Sascha
    Publication type:
    Article
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    Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03395-4
    By:
    • Wertheim-Tysarowska, Katarzyna;
    • Osipowicz, Katarzyna;
    • Woźniak, Katarzyna;
    • Sawicka, Justyna;
    • Mika, Adrianna;
    • Kutkowska-Kaźmierczak, Anna;
    • Niepokój, Katarzyna;
    • Sobczyńska-Tomaszewska, Agnieszka;
    • Wawrzycki, Bartłomiej;
    • Pietrzak, Aldona;
    • Śmigiel, Robert;
    • Wojtaś, Bartosz;
    • Gielniewski, Bartłomiej;
    • Szabelska-Beresewicz, Alicja;
    • Zyprych-Walczak, Joanna;
    • Rygiel, Agnieszka Magdalena;
    • Domaszewicz, Alicja;
    • Braun-Walicka, Natalia;
    • Grabarczyk, Alicja;
    • Rzońca-Niewczas, Sylwia
    Publication type:
    Article
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    The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03373-w
    By:
    • Parenti, Giancarlo;
    • Fecarotta, Simona;
    • Alagia, Marianna;
    • Attaianese, Federica;
    • Verde, Alessandra;
    • Tarallo, Antonietta;
    • Gragnaniello, Vincenza;
    • Ziagaki, Athanasia;
    • Guimaraes, Maria Jose';
    • Aguiar, Patricio;
    • Hahn, Andreas;
    • Azevedo, Olga;
    • Donati, Maria Alice;
    • Kiec-Wilk, Beata;
    • Scarpa, Maurizio;
    • van der Beek, Nadine A. M. E.;
    • Del Toro Riera, Mireja;
    • Germain, Dominique P.;
    • Huidekoper, Hidde;
    • van den Hout, Johanna M. P.
    Publication type:
    Article
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    Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03392-7
    By:
    • de Oliveira, Bibiana Mello;
    • Bernardi, Filipe Andrade;
    • Baiochi, João Francisco;
    • Neiva, Mariane Barros;
    • Artifon, Milena;
    • Vergara, Alberto Andrade;
    • Martins, Ana Maria;
    • Grumach, Anete Sevciovic;
    • Acosta, Angelina Xavier;
    • Husny, Antonette Souto El;
    • de Freitas Rodrigues Ribeiro, Bethania;
    • Ramos, Camila Ferreira;
    • Steiner, Carlos Eduardo;
    • Kim, Chong Ae;
    • Christofolini, Denise Maria;
    • Yamada, Diego Bettiol;
    • Carvalho, Ellaine Doris Fernandes;
    • Ribeiro, Erlane Marques;
    • de Arruda Bastos, Fabíola;
    • Serpa, Faradiba Sarquis
    Publication type:
    Article
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    Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03364-x
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Smith, Maureen;
    • Offringa, Martin;
    • Butcher, Nancy J.;
    • Campeau, Philippe M.;
    • Chakraborty, Pranesh;
    • Chan, Alicia;
    • Fergusson, Dean;
    • Mamak, Eva;
    • McClelland, Peyton;
    • Mercimek-Andrews, Saadet;
    • Mhanni, Aizeddin;
    • Moazin, Zeinab;
    • Rockman-Greenberg, Cheryl;
    • Rupar, C. Anthony
    Publication type:
    Article
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    Infrared spectroscopy as a new approach for early fabry disease screening: a pilot study.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03380-x
    By:
    • Barretto, Carolina Teles;
    • Nascimento, Márcia Helena Cassago;
    • Brun, Bruna Ferro;
    • da Silva, Tiago Barcelos;
    • Dias, Pedro Augusto Costa;
    • Silva, Cassiano Augusto Braga;
    • Singh, Maneesh N.;
    • Martin, Francis L.;
    • Filgueiras, Paulo Roberto;
    • Romão, Wanderson;
    • Campos, Luciene Cristina Gastalho;
    • Barauna, Valerio Garrone
    Publication type:
    Article
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    Correction to: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

    Published in:
    2024
    By:
    • Revencu, Nicole;
    • Eijkelenboom, Astrid;
    • Bracquemart, Claire;
    • Alhopuro, Pia;
    • Armstrong, Judith;
    • Baselga, Eulalia;
    • Cesario, Claudia;
    • Dentici, Maria Lisa;
    • Eyries, Melanie;
    • Frisk, Sofia;
    • Karstensen, Helena Gásdal;
    • Gene‑Olaciregui, Nagore;
    • Kivirikko, Sirpa;
    • Lavarino, Cinzia;
    • Mero, Inger‑Lise;
    • Michiels, Rodolphe;
    • Pisaneschi, Elisa;
    • Schönewolf‑Greulich, Bitten;
    • Wieland, Ilse;
    • Zenker, Martin
    Publication type:
    Correction Notice
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    Therapeutic delivery of recombinant glucocerebrosidase enzyme-containing extracellular vesicles to human cells from Gaucher disease patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03376-7
    By:
    • Janpipatkul, Keatdamrong;
    • Sutjarit, Nareerat;
    • Tangprasittipap, Amornrat;
    • Chaiamarit, Tai;
    • Innachai, Pawarit;
    • Suksen, Kanoknetr;
    • Chokpanuwat, Tanida;
    • Tim-Aroon, Thipwimol;
    • Anurathapan, Usanarat;
    • Jearawiriyapaisarn, Natee;
    • Tubsuwan, Alisa;
    • Bowornpinyo, Supareak;
    • Asavapanumas, Nithi;
    • Chairoungdua, Arthit;
    • Bhukhai, Kanit;
    • Hongeng, Suradej
    Publication type:
    Article
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