المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ

المصدر: Orphanet journal of rare diseases. 15(1):3

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:143042857Test

المؤلفون: Mendes, Ana Raquel, Quelhas, D, Correia, Joana, Paiva Coelho, Margarida, Bandeira, Anabela, Martins, Esmeralda

مصطلحات موضوعية: congenital disorders of glycosylation, MPI-CDG, multisystemic disease, oral mannose, PMM2-CDG, serum transferrin isoelectric focusing

العلاقة: Nascer e Crescer - Birth and Growth Medical Journal 2022;31(1):38-54. doi:10.25753/BirthGrowthMJ.v31.i1.26341; http://hdl.handle.net/10400.16/2762Test; https://doi.org/10.25753/BirthGrowthMJ.v31.i1.26341Test

الإتاحة: https://doi.org/10.25753/BirthGrowthMJ.v31.i1.26341Test
http://hdl.handle.net/10400.16/2762Test

المؤلفون: Quelhas, D, Correia, J, Jaeken, J, Azevedo, L, Lopes-Marques, M, Bandeira, A, Keldermans, L, Matthijs, G, Sturiale, L, Martins, E

المساهمون: Instituto de Investigação e Inovação em Saúde

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID%2FMulti%2F00215%2F2013/PT; Molecular Genetics and Metabolism Reports, vol.26:100717; https://www.sciencedirect.com/science/article/pii/S2214426921000112?via%3DihubTest; https://hdl.handle.net/10216/150448Test

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100717Test
https://hdl.handle.net/10216/150448Test

المؤلفون: Čechová, Anna, Honzík, Tomáš, Edmondson, Andrew C., Ficicioglu, Can, Serrano, Mercedes, Barone, Rita, De Lonlay, Pascale, Schiff, Manuel, Witters, Peter, Lam, Christina, Patterson, Marc, Janssen, Mirian C.H., Correia, Joana, Quelhas, D, Sykut-Cegielska, Jolanta, Plotkin, Horacio, Morava, Eva, Sarafoglou, Kyriakie

مصطلحات موضوعية: ACTH, CDG, Cortisol, Glycosylation, Inborn errors of metabolism, PMM2-CDG, Phosphomannomutase 2-CDG

العلاقة: https://www.sciencedirect.com/science/article/pii/S109671922100723X?via%3DihubTest; Čechová A, Honzík T, Edmondson AC, et al. Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?. Mol Genet Metab. 2021;133(4):397-399. doi:10.1016/j.ymgme.2021.06.003; http://hdl.handle.net/10400.16/2877Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2021.06.003Test
http://hdl.handle.net/10400.16/2877Test

المؤلفون: Vaes, Laurien, Rymen, Daisy, Cassiman, David, Ligezka, Anna, Vanhoutvin, Nele, Quelhas, D, Morava, Eva, Witters, Peter

مصطلحات موضوعية: NPCRS, PMM2-CDG, congenital disorders of glycosylation, genotype, mutation

العلاقة: https://www.mdpi.com/2073-4425/12/11/1658Test; Vaes L, Rymen D, Cassiman D, et al. Genotype-Phenotype Correlations in PMM2-CDG. Genes (Basel). 2021;12(11):1658. doi:10.3390/genes12111658; http://hdl.handle.net/10400.16/2841Test

الإتاحة: https://doi.org/10.3390/genes12111658Test
http://hdl.handle.net/10400.16/2841Test

المؤلفون: Quelhas, D, Martins, E, Azevedo, L, Bandeira, A, Diogo, L, Garcia, P, Sequeira, S, Ferreira, AC, Teles, EL, Rodrigues, E, Fortuna, AM, Mendonça, C, Fernandes, HC, Medeira, A, Gaspar, A, Janeiro, P, Oliveira, A, Laranjeira, F, Ribeiro, I, Souche, E, Race, V, Keldermans, L, Matthijs, G, Jaeken, J

مصطلحات موضوعية: CDG, PMM2 genotype, Congenital disorder/glycosylation, Phenotype, Transferrin, HDE MTB

العلاقة: J Pediatr . 2021 Apr;231:148-156.; http://hdl.handle.net/10400.17/4292Test

الإتاحة: https://doi.org/10.1016/j.jpeds.2020.12.026Test
http://hdl.handle.net/10400.17/4292Test

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: Encarnação, Marisa, Coutinho, Maria Francisca, Cho, Soo Min, Cardoso, Maria Teresa, Ribeiro, Isaura, Chaves, Paulo, Santos, Juliana Inês, Quelhas, D, Lacerda, Lucia, Leão Teles, Elisa, Futerman, Anthony H., Vilarinho, Laura, Alves, Sandra

مصطلحات موضوعية: NPC1, Niemann-Pick type C, RNA-seq, exon skipping, silent variant, unfolded protein response

العلاقة: info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBBB-BMD%2F6301%2F2014/PT; info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00211%2F2020/PT; info:eu-repo/grantAgreement/FCT/OE/SFRH%2FBPD%2F101965%2F2014/PT; info:eu-repo/grantAgreement/FCT/OE/SFRH%2FBD%2F124372%2F2016/PT; Encarnação M, Coutinho MF, Cho SM, et al. NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient. Mol Genet Genomic Med. 2020;8(11):e1451. doi:10.1002/mgg3.1451; http://hdl.handle.net/10400.16/2678Test

الإتاحة: https://doi.org/10.1002/mgg3.1451Test
http://hdl.handle.net/10400.16/2678Test

المؤلفون: Borges, Teresa, Fortuna, Ana, Faria, Maria Do Sameiro, Oliveira, Maria João, Freitas, Joana, Santos Silva, Ermelinda, Quelhas, D, Figueiredo, Catarina Matos, Soares, Ana Rita

مصطلحات موضوعية: Hyperinsulinemic hypoglycemia, PMM2 gene, polycystic kidney disease

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308104Test/; Soares AR, Figueiredo CM, Quelhas D, et al. Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning PMM2 Gene Pleiotropy. Eur Endocrinol. 2020;16(1):66-68. doi:10.17925/EE.2020.16.1.66; http://hdl.handle.net/10400.16/2594Test

الإتاحة: https://doi.org/10.17925/EE.2020.16.1.66Test
http://hdl.handle.net/10400.16/2594Test

المؤلفون: Vieira Neto, Eduardo, Laranjeira, F., Quelhas, D., Ribeiro, I., Seabra, A., Mineiro, N., Carvalho, L., Lacerda, L., Ribeiro, M.

مصطلحات موضوعية: Brazil, genetic association studies, genotype, hyperphenylalaninemia, phenotype, phenylalanine hydroxylase, phenylketonuria

العلاقة: Vieira Neto E, Laranjeira F, Quelhas D, et al. Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil. Mol Genet Genomic Med. 2019;7(5):e610. doi:10.1002/mgg3.610; http://hdl.handle.net/10400.16/2406Test

الإتاحة: https://doi.org/10.1002/mgg3.610Test
http://hdl.handle.net/10400.16/2406Test