Management of metabolic crisis in three-dayold newborn by Tea Kržak, Lorena Loje Loje, Ivo Barić, Dorotea Ninković

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Asymptomatic pediatric presentation of S‐adenosylhomocysteine hydrolase deficiency by Patrícia Lipari Pinto, Marjorie Dixon, Sniya Sudhakar, Ivo Baric, Julien Baruteau

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Mild carnitine uptake defect due to a novel homozygous mutation in the SLC22A5 gene detected by newborn screening by Lea Klepač, Klara Miljanić, Danijela Petković Ramadža, Ivo Barić, Tamara Žigman

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Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology by Danijela Petković Ramadža, Danijela Petković Ramadža, Ivana Kuhtić, Kamelija Žarković, Kamelija Žarković, Hanns Lochmüller, Hanns Lochmüller, Mislav Čavka, Mislav Čavka, Ida Kovač, Ivo Barić, Ivo Barić, Maja Prutki, Maja Prutki

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Pet godina proširenog novorođenačkog probira u Hrvatskoj – što smo postigli? by Ivo Barić, Danijela Petković Ramadža, Tamara Žigman, Ana Škaričić, Iva Bilandžija Kuš, Ivana Križić, Korana Lipovac, Ksenija Fumić

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Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. by Antje Motzek, Jelena Knežević, Olivier J Switzeny, Alexis Cooper, Ivo Barić, Robert Beluzić, Kevin A Strauss, Erik G Puffenberger, S Harvey Mudd, Oliver Vugrek, Ulrich Zechner

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Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine by Katarina Šikić, Tessa M. A. Peters, Udo Engelke, Danijela Petković Ramadža, Tamara Žigman, Ksenija Fumić, Maša Davidović, Sanda Huljev Frković, Tibor Körmendy, Diego Martinelli, Antonio Novelli, Francesca Romana Lepri, Ron A. Wevers, Ivo Barić

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Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver by Mihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, Ivana Rako, Slobodan Galić, Toni Matić, Filip Rubić, Ivana Čulo Čagalj, Davor Mayer, Ante Gojević, Stanko Ćavar, Marijana Ćorić, Melanie T. Achleitner, Johannes A. Mayr, Ksenija Fumić, Jurica Vuković, Ivo Barić

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Experiences with galactosemia in Croatia by Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka†, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić

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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? by Eva Seemanova, Raymonda Varon, Jan Vejvalka, Petr Jarolim, Pavel Seeman, Krystyna H Chrzanowska, Martin Digweed, Igor Resnick, Ivo Kremensky, Kathrin Saar, Katrin Hoffmann, Véronique Dutrannoy, Mohsen Karbasiyan, Mehdi Ghani, Ivo Barić, Mustafa Tekin, Peter Kovacs, Michael Krawczak, André Reis, Karl Sperling, Michael Nothnagel

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Current Status of Newborn Screening in Southeastern Europe by Vanesa Koracin, Matej Mlinaric, Ivo Baric, Ian Brincat, Maja Djordjevic, Ana Drole Torkar, Ana Drole Torkar, Ksenija Fumic, Mirjana Kocova, Tatjana Milenkovic, Florentina Moldovanu, Vjosa Mulliqi Kotori, Michaela Iuliana Nanu, Ziga Iztok Remec, Barbka Repic Lampret, Barbka Repic Lampret, Dimitrios Platis, Alexey Savov, Mira Samardzic, Biljana Suzic, Ildiko Szatmari, Alma Toromanovic, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Tadej Battelino, Tadej Battelino, Urh Groselj, Urh Groselj

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Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders by Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I. Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review by Bianca Panis, Bianca Panis, Bianca Panis, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Annet M. Bosch, Annet M. Bosch, Martijn C. G. J. Brouwers, Martijn C. G. J. Brouwers, Alberto Burlina, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, María L. Couce, Anibh M. Das, Anibh M. Das, Didem Demirbas, Aurélie Empain, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Elisa Leão-Teles, Dorothea Möslinger, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Katrin Õunap, Adriana Pané, Adriana Pané, Sabrina Paci, Sabrina Paci, Rossella Parini, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo

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