Transferència

  • Bicalutamide analogs or (S)-Bicalutamide as exocytosis activating compounds for use in the treatment of lysosomal diseases or glycogenosis

    Owners: Josep Farrera-Sinfreu (BCN PEPTIDES, S.A.), Leslie Matalonga Borrel (FCRB), Laura Gort Mas (FCRB), Roberto Pascual Martínez (UMH),  Antonio Ferrer Montiel (UMH), Antonia Ribes Rubió (FCRB), Berta Ponsati Obiols (BCN PEPTIDES, S.A.).

    WO publication number: EP3086784 - EPA13382541 - EP14815747.2

  • Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Chapter 27. Disorders of Lipoic Acid and Iron-Sulfur Protein Metabolism.

    Authors: Frederic Tort, Antonia Ribes (Editors: Nenad Blau, Marinus Duran, Milan E. Blaskovics, K. Michael Gibson).

    Reference: Springer Berlin, Heidelbergi. ISBN: 978-3-642-55878-8. https://doi.org/10.1007/978-3-642-55878-8

  • International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

    Authors:  Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E.

    Reference:  J Inherit Metab Dis. 2021 Jan;44(1):148-163.PMID: 32681750.

  • Newborn screening for homocystinurias: Recent recommendations versus current practice

    Authors: Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M;and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F,Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E,Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.


    Reference: J Inherit Metab Dis. 2019;42(1):128-139. PMID: 30740731.

  • International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

    Authors: Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

    Reference: J Inherit Metab Dis. 2019;42(1):5-28. PMID: 30740725.

  • Protocolo diagnóstico de las miopatías

    Authors: Milisenda JC, Grau JM

    Reference: Medicine-Programa de Formación Médica Continuada acreditado. DOI:10.1016/j.med.2017.03.005

  • Algoritmo diagnóstico de la Hiper-CK-emia y de la rabdmiólisis iterativa

    Authors: Milisenda J. Grau JM

    Reference: Intranet ICMiD

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

    Authors: Ariceta G, Camacho JA, Fernández-Obispo M, Fernández-Polo A, Gamez J, García-Villoria J, Lara Monteczuma E, Leyes P, Martín-Begué N, Oppenheimer F, Perelló M, Morell GP, Torra R, Santandreu AV, Güell A; Grupo T-CiS.bcn.

    Reference: Nefrologia. 2015; 35(3):304-21. PMID: 26523297.