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2024 Polish recommendations for the management of familial hypercholesterolemia in children and adolescents 2024波兰关于儿童和青少年家族性高胆固醇血症管理的建议 Mysliwiec, Malgorzata; Bandura, Marta; Woloszyn-Durkiewicz, Anna; Hennig, Matylda; Walczak, Mieczyslaw; Sykut-Cegielska, Jolanta; Peregud-Pogorzelski, Jaroslaw; Miszczak-Knecht, Maria; Chlebus, Krzysztof; Wasag, Bartosz; Zmyslowska, Agnieszka; Banach, Maciej 分享 收藏
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG Pajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin 分享 收藏
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Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing 基因组和RNA测序对于揭示与缺陷ATP6AP1 mRNA加工相关的隐性内含子变体至关重要 Morales-Romero, Blai; Munoz-Pujol, Gerard; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar; Sykut-Cegielska, Jolanta; Campistol, Jaume; Moreno-Lozano, Pedro Juan; Oud, Machteld M.; Wevers, Ron A.; Lefeber, Dirk J.; Esteve-Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes, Antonia; Garcia-Villoria, Judit; Tort, Frederic 分享 收藏
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023) Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad 分享 收藏
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad 分享 收藏
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role Bisello, Giovanni; Kusmierska, Katarzyna; Verbeek, Marcel M.; Sykut-Cegielska, Jolanta; Willemsen, Michel A. A. P.; Wevers, Ron A.; Szymanska, Krystyna; Poznanski, Jaroslaw; Drozak, Jakub; Wertheim-Tysarowska, Katarzyna; Rygiel, Agnieszka Magdalena; Bertoldi, Mariarita 分享 收藏
COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases-Organizational Challenges from the Point of View of Healthcare Providers Tobor-Swietek, Ewa; Sykut-Cegielska, Jolanta; Bik-Multanowski, Miroslaw; Walczak, Mieczyslaw; Rokicki, Dariusz; Kaluzny, Lukasz; Wierzba, Joanna; Pac, Malgorzata; Jahnz-Rozyk, Karina; Wiesik-Szewczyk, Ewa; Kiec-Wilk, Beata 分享 收藏
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? 是否应该对磷酸变位酶2-CDG (PMM2-CDG) 患者进行肾上腺功能不全筛查？ Cechova, Anna; Honzik, Tomas; 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, Dulce; Sykut-Cegielska, Jolanta; Plotkin, Horacio; Morava, Eva; Sarafoglou, Kyriakie 分享 收藏
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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective 新型冠状病毒肺炎大流行对先天性代谢错误的诊断和管理的影响: 全球视角 Elmonem, Mohamed A.; Belanger-Quintana, Amaya; Bordugo, Andrea; Boruah, Ritma; Cortes-Saladelafont, Elisenda; Endrakanti, Mounika; Giraldo, Pilar; Gruenert, Sarah Catharina; Gupta, Neerja; Kabra, Madhulika; Knerr, Ina; Kraemer, Johannes; Kuster, Alice; Levtchenko, Elena; Ngu, Lock-Hock; Rovira-Remisa, M. Mar; Sass, Joern Oliver; Sykut-Cegielska, Jolanta; Tummolo, Albina; van den Heuvel, Lambertus P. 分享 收藏
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Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit Smigiel, Robert; Biela, Mateusz; Szmyd, Krzysztof; Bloch, Michal; Szmida, Elzbieta; Skiba, Pawel; Walczak, Anna; Gasperowicz, Piotr; Kosinska, Joanna; Rydzanicz, Malgorzata; Stawinski, Piotr; Biernacka, Anna; Zielinska, Marzena; Golebiowski, Waldemar; Jalowska, Agnieszka; Ohia, Grazyna; Glowska, Bozena; Walas, Wojciech; Krolak-Olejnik, Barbara; Krajewski, Pawel; Sykut-Cegielska, Jolanta; Sasiadek, Maria M.; Ploski, Rafal 分享 收藏
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG Witters, Peter; Tahata, Shawn; Barone, Rita; Ounap, Katrin; Salvarinova, Ramona; Gronborg, Sabine; Hoganson, George; Scaglia, Fernando; Lewis, Andrea Margaret; Mori, Mari; Sykut-Cegielska, Jolanta; Edmondson, Andrew; He, Miao; Morava, Eva 分享 收藏
A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries Czech, Marcin; Baran-Kooiker, Aleksandra; Atikeler, Kagan; Demirtshyan, Maria; Gaitova, Kamilla; Holownia-Voloskova, Malwina; Turcu-Stiolica, Adina; Kooiker, Coen; Piniazhko, Oresta; Konstandyan, Natella; Zalis'ka, Olha; Sykut-Cegielska, Jolanta 分享 收藏
Enzyme replacement therapy in Fabry disease in Poland: a position statement Nowicki, Michal; Bazan-Socha, Stanislawa; Blazejewska-Hyzorek, Beata; Gellert, Ryszard; Imiela, Jacek; Kazmierczak, Jaroslaw; Klopotowski, Mariusz; Oko-Sarnowska, Zofia; Pawlaczyk, Krzysztof; Ponikowski, Piotr; Slawek, Jaroslaw; Sykut-Cegielska, Jolanta; Witkowski, Adam; Zwolinska, Danuta 分享 收藏
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