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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 Share Save
Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis Stufkova, Hana; Majer, Filip; Hanak, Petr; Noskova, Lenka; Stranecky, Viktor; Rychtarova, Lucie; Ferdinandusse, Sacha; Krizova, Jana; Hansikova, Hana; Tesarova, Marketa; Kmoch, Stanislav; Kolarova, Hana; Honzik, Tomas; Sikora, Jakub Share Save
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Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis Kopcilova, Johana; Ptackova, Hana; Kramarova, Tereza; Fajkusova, Lenka; Reblova, Kamila; Zeman, Jiri; Honzik, Tomas; Zdrazilova, Lucie; Zamecnik, Josef; Balazova, Patricia; Viestova, Karin; Kolnikova, Miriam; Hansikova, Hana; Zidkova, Jana Share Save
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG Zdrazilova, L.; Rakosnikova, T.; Himmelreich, N.; Ondruskova, N.; Pasak, M.; Vanisova, M.; Volfova, N.; Honzik, T.; Thiel, C.; Hansikova, H. Share Save
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 Share Save
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 Share Save
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches Himmelreich, Nastassja; Kikul, Frauke; Zdrazilova, Lucie; Honzik, Tomas; Hecker, Andreas; Poschet, Gernot; Luechtenborg, Christian; Bruegger, Britta; Strahl, Sabine; Buerger, Friederike; Okun, Juergen G.; Hansikova, Hana; Thiel, Christian Share Save
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Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia Huebschmann, Oya Kuseyri; Julia-Palacios, Natalia Alexandra; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhanek, Jan; Pearson, Toni S.; Kuster, Alice; Cortes-Saladelafont, Elisenda; Ibanez, Salvador; Garcia-Jimenez, Maria Concepcion; Honzik, Tomas; Santer, Rene; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Georg F.; Opladen, Thomas; Garcia-Cazorla, Angeles Share Save
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines Huebschmann, Oya Kuseyri; Horvath, Gabriella; Cortes-Saladelafont, Elisenda; Yildiz, Yilmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios, I; Kulhanek, Jan; Kurian, Manju A.; Lopez-Laso, Eduardo; Oppeboen, Mari; Kilavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Buergi, Sabine; Porta, Francesco; Honzik, Tomas; Santer, Rene; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Huebschmann, Daniel; Garbade, Sven F.; Garcia-Cazorla, Angeles; Opladen, Thomas Share Save
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study Rucklova, Kristina; Hruba, Eva; Pavlikova, Marketa; Hanak, Petr; Farolfi, Martina; Chrastina, Petr; Vlaskova, Hana; Kousal, Bohdan; Smolka, Vratislav; Foltenova, Hana; Adam, Tomas; Friedecky, David; Jesina, Pavel; Zeman, Jiri; Kozich, Viktor; Honzik, Tomas Share Save
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? 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 Share Save
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