Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Autor: Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz, Ann Nordgren, Rasa Traberg, Massimiliano Rossi, Aurelién Trimouille, Rasika Sowmyalakshmi, Bruno Dallapiccola, Alessandra Renieri, Laurence Faivre, Bronwyn Kerr, Alain Verloes, Jill Clayton-Smith, Sofia Douzgou, on behalf of ERN ITHACA

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

Abstract Background The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management

Externí odkaz: https://doaj.org/article/d1bebb0fda4546c08ace4997751a80ac

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Autor: Francesca Clementina Radio, Bruno Dallapiccola, Mélanie Fradin, Alessandra Renieri, Alain Verloes, Jill Clayton-Smith, Michael Smith, Bronwyn Kerr, Rasika Sowmyalakshmi, Dorica Dan, Matteo Cassina, Massimiliano Rossi, Marketa Havlovicova, Laurence Faivre, Con Hennessy, Sofia Douzgou, Hany Mina, Siddharth Banka, Rasa Traberg, Aurélien Trimouille, Myfanwy Rawson, Ruta Marcinkute, Elizabeth Alexander, Ann Nordgren, Adela Chirita Emandi, Florence Riccardi, Jason Gavin, Lianne Gompertz

Publikováno v: Orphanet journal of rare diseases, London : BioMed Central, 2020, vol. 15, no. 1, 103, p. 1-11
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet journal of rare diseases, London : BioMed Central, 2020, vol. 15, no. 1, art. no. 103, p. 1-11
Orphanet Journal of Rare Diseases
ERN ITHACA 2020, ' Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders ', Orphanet Journal of Rare Diseases, vol. 15, no. 1, pp. 103 . https://doi.org/10.1186/s13023-020-1349-1

Background The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management System,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3411f799893f04db1f3a2d908be76be
https://repository.vu.lt/VU:ELABAPDB57187165&prefLang=en_US

Structure requirements for anaerobe processing of azo compounds: Implications for prodrug design

Autor: Juan F. Marquez Ruiz, Kinga Kedziora, Henry J. Windle, Jason Gavin, John F. Gilmer, Dermot Kelleher

Publikováno v: Bioorganic & Medicinal Chemistry Letters. 22:7647-7652

This Letter generalizes the metabolism of the azo class of compounds by Clostridium perfringens, an anaerobe found in the human colon. A recently reported 5-aminosalicylic acid-based prednisolone prodrug was shown to release the drug when incubated w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0143f459348698ac75655075a7584c19
https://doi.org/10.1016/j.bmcl.2012.10.014