Not logged in Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries Magner, Martin; Saho, Robert; Slavikova, Petra; Bakalar, Radovan; Dvorakova, Lenka; Peskova, Karolina; Ramadza, Danijela Petkovic; Baric, Ivo; Ilic, Nikola; Cechova, Anna; Reboun, Martin; Vlaskova, Hana; Kelifova, Silvie; Jesina, Pavel; Prochazkova, Dagmar; Hansikova, Hana; Honzik, Tomas; Zeman, Jiri Share Save
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Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Sikic, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schaenzer, Anne; Kuesters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadza, Danijela Petkovic; Jakovcevic, Antonia; Zigman, Tamara; Cavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Baric, Ivo; Lochmueller, Hanns Share Save
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Ramadza, Danijela Petkovic; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria Share Save
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Baric, Ivo; Ramadza, Danijela Petkovic; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, Rene; Servidei, Serenella; Bris, Celine; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cecile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina Share Save
Genetic landscape of pediatric acute liver failure of indeterminate origin Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger Share Save
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Caliskan, Haluk; Kokotovic, Tomislav; Blazekovic, Antonela; Jercic, Kristina Gotovac; Markovic, Silvana; Zigman, Tamara; Goran, Krnjak; Barisic, Nina; Duranovic, Vlasta; Ban, Ana; Borovecki, Fran; Ramadza, Danijela Petkovic; Baric, Ivo; Fazeli, Walid; Herkenrath, Peter; Marini, Carla; Vittorini, Roberta; Gowda, Vykuntaraju; Bouman, Arjan; Rocca, Clarissa; Alkhawaja, Issam Azmi; Murtaza, Bibi Nazia; Rehman, Malik Mujaddad Ur; Al Alam, Chadi; Nader, Gisele; Mancardi, Maria Margherita; Giacomini, Thea; Srivastava, Siddharth; Alvi, Javeria Raza; Tomoum, Hoda; Matricardi, Sara; Iacomino, Michele; Riva, Antonella; Scala, Marcello; Madia, Francesca; Pistorio, Angela; Salpietro, Vincenzo; Minetti, Carlo; Riviere, Jean-Baptiste; Srour, Myriam; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Vernes, Sonja Catherine; Zara, Federico; Striano, Pasquale; Nagy, Vanja Share Save
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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 Loeber, J. Gerard; Platis, Dimitris; Zetterstroem, Rolf H.; Almashanu, Shlomo; Boemer, Francois; Bonham, James R.; Borde, Patricia; Brincat, Ian; Cheillan, David; Dekkers, Eugenie; Dimitrov, Dobry; Fingerhut, Ralph; Franzson, Leifur; Groselj, Urh; Hougaard, David; Knapkova, Maria; Kocova, Mirjana; Kotori, Vjosa; Kozich, Viktor; Kremezna, Anastasiia; Kurkijaervi, Riikka; La Marca, Giancarlo; Mikelsaar, Ruth; Milenkovic, Tatjana; Mitkin, Vyacheslav; Moldovanu, Florentina; Ceglarek, Uta; O'Grady, Loretta; Oltarzewski, Mariusz; Pettersen, Rolf D.; Ramadza, Danijela; Salimbayeva, Damilya; Samardzic, Mira; Shamsiddinova, Markhabo; Songailiene, Jurgita; Szatmari, Ildiko; Tabatadze, Nazi; Tezel, Basak; Toromanovic, Alma; Tovmasyan, Irina; Usurelu, Natalia; Vevere, Parsla; Vilarinho, Laura; Vogazianos, Marios; Yahyaoui, Raquel; Zeyda, Maximilian; Schielen, Peter C. J., I Share Save
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study Nuovo, Sara; Micalizzi, Alessia; Romaniello, Romina; Arrigoni, Filippo; Ginevrino, Monia; Casella, Antonella; Serpieri, Valentina; D'Arrigo, Stefano; Briguglio, Marilena; Salerno, Grazia Gabriella; Rossato, Sara; Sartori, Stefano; Leuzzi, Vincenzo; Battini, Roberta; Ben-Zeev, Bruria; Graziano, Claudio; Mirabelli Badenier, Marisol; Brankovic, Vesna; Nardocci, Nardo; Spiegel, Ronen; Petkovic Ramadza, Danijela; Vento, Giovanni; Marti, Itxaso; Simonati, Alessandro; Dipresa, Savina; Freri, Elena; Mazza, Tommaso; Bassi, Maria Teresa; Bosco, Luca; Travaglini, Lorena; Zanni, Ginevra; Bertini, Enrico Silvio; Vanacore, Nicola; Borgatti, Renato; Valente, Enza Maria Share Save
The natural history of classic galactosemia: lessons from the GalNet registry Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Haberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Moeslinger, D.; Mueller-Wieland, D.; Murphy, E.; Ounap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; de Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T. Share Save
Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report Zekusic, Marija; Skaricic, Ana; Fumic, Ksenija; Rogic, Dunja; Zigman, Tamara; Ramadza, Danijela Petkovic; Vukojevic, Nenad; Rufenacht, Veronique; Uroic, Valentina; Baric, Ivo Share Save
Neuroradiological brain phenotype in mucopolysaccharidosis type II patients from 5 European countries Nestrasil, Igor; Nguyen, Carol; Vaneckova, Manuela; Burgetova, Andrea; Murgasova, Lenka; Zeman, Jiri; Ramadza, Danijela Petkovic; Baric, Ivo; Almassy, Zsuzsanna; Jurickova, Katarina; Bzduch, Vladimir; Tylki-Szymanska, Anna; Magner, Martin Share Save
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Mueller-Felber, Wolfgang; Haack, Tobias B.; Ploski, Rafal; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix; Prokisch, Holger Share Save
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome Horn, Denise; Wieczorek, Dagmar; Metcalfe, Kay; Baric, Ivo; Palezac, Lidija; Cuk, Mario; Ramadza, Danijela Petkovic; Krueger, Ulrike; Demuth, Stephanie; Heinritz, Wolfram; Linden, Tobias; Koenig, Jens; Robinson, Peter N.; Krawitz, Peter Share Save
Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene Baric, Ivo; Fumic, Ksenija; Ramadza, Danijela Petkovic; Sperl, Wolfgang; Zimmermann, Franz A.; Muacevic-Katanec, Diana; Mitrovic, Zoran; Pazanin, Leo; Sojat, Ljerka Cvitanovic; Kekez, Tihomir; Reiner, Zeljko; Mayr, Johannes A. Share Save
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency Karacic, Iva; Meili, David; Sarnavka, Vladimir; Heintz, Caroline; Thoeny, Beat; Ramadza, Danijela Petkovic; Fumic, Ksenija; Mardesic, Dusko; Baric, Ivo; Blau, Nenad Share Save
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