المؤلفون: Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Pascoal, Carlota, Quelhas, D, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari‐Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva

مصطلحات موضوعية: d-galactose, PGM1-CDG, congenital disorder of glycosylation, management guidelines, phosphoglucomutase 1 deficiency

العلاقة: Altassan R, Radenkovic S, Edmondson AC, et al. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021;44(1):148-163. doi:10.1002/jimd.12286; http://hdl.handle.net/10400.16/2810Test

الإتاحة: https://doi.org/10.1002/jimd.12286Test
http://hdl.handle.net/10400.16/2810Test

المؤلفون: Madanelo, Mariana, Ferreira, Carlos, Nunes-Carneiro, Diogo, Pinto, André, Rocha, Maria Alexandra, Correia, Jorge, Teixeira, Bernardo, Mendes, Gonçalo, Tavares, Catarina, Mesquita, Sofia, Fraga, Avelino

مصطلحات موضوعية: emergency department, pandemics, severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2, state of emergency, urology

العلاقة: Madanelo M, Ferreira C, Nunes-Carneiro D, Pinto A, Rocha MA, Correia J, Teixeira B, Mendes G, Tavares C, Mesquita S, Fraga A. The impact of the coronavirus disease 2019 pandemic on the utilisation of emergency urological services. BJU Int. 2020 Aug;126(2):256-258. doi:10.1111/bju.15109. Epub 2020 Jun 14. PMID: 32406551; PMCID: PMC7272803.; http://hdl.handle.net/10400.16/2490Test

الإتاحة: https://doi.org/10.1111/bju.15109Test
http://hdl.handle.net/10400.16/2490Test