Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

von Žigman, Tamara, Petković Ramadža, Danijela, Šimić, Goran, Barić, Ivo
Veröffentlicht in Front Neurosci (2021)

Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)

von Lamhonwah, Anne‐Marie, Barić, Ivo, Lamhonwah, Jessica, Grubić, Marina, Tein, Ingrid
Veröffentlicht in Clin Case Rep (2018)

A single mutation at Tyr(143) of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide–adenine di...

von Belužić, Robert, Ćuk, Mario, Pavkov, Tea, Fumić, Ksenija, Barić, Ivo, Mudd, S. Harvey, Jurak, Igor, Vugrek, Oliver
Veröffentlicht 2006

Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

von Barić, Ivo, Erdol, Sahin, Saglam, Halil, Lovrić, Mila, Belužić, Robert, Vugrek, Oliver, Blom, Henk J., Fumić, Ksenija
Veröffentlicht in JIMD Rep (2016)

A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum

von Sakaguchi, Tomohiro, Žigman, Tamara, Petković Ramadža, Danijela, Omerza, Lana, Pušeljić, Silvija, Ereš Hrvaćanin, Zrinka, Miyake, Noriko, Matsumoto, Naomichi, Barić, Ivo
Veröffentlicht in Hum Genome Var (2018)

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

von Zekušić, Marija, Škaričić, Ana, Fumić, Ksenija, Rogić, Dunja, Žigman, Tamara, Petković Ramadža, Danijela, Vukojević, Nenad, Rüfenacht, Véronique, Uroić, Valentina, Barić, Ivo
Veröffentlicht in Biochem Med (Zagreb) (2018)

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

von Motzek, Antje, Knežević, Jelena, Switzeny, Olivier J., Cooper, Alexis, Barić, Ivo, Beluzić, Robert, Strauss, Kevin A., Puffenberger, Erik G., Mudd, S. Harvey, Vugrek, Oliver, Zechner, Ulrich
Veröffentlicht in PLoS One (2016)

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

von Barić, Ivo, Staufner, Christian, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Dobbelaere, Dries, Grünert, Sarah C., Opladen, Thomas, Petković Ramadža, Danijela, Rakić, Bojana, Wedell, Anna, Blom, Henk J.
Veröffentlicht in J Inherit Metab Dis (2016)

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene

von Barić, Ivo, Fumić, Ksenija, Petković Ramadža, Danijela, Sperl, Wolfgang, Zimmermann, Franz A, Muačević-Katanec, Diana, Mitrović, Zoran, Pažanin, Leo, Cvitanović Šojat, Ljerka, Kekez, Tihomir, Reiner, Željko, Mayr, Johannes A
Veröffentlicht 2013

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

von Horn, Denise, Wieczorek, Dagmar, Metcalfe, Kay, Barić, Ivo, Paležac, Lidija, Ćuk, Mario, Petković Ramadža, Danijela, Krüger, Ulrike, Demuth, Stephanie, Heinritz, Wolfram, Linden, Tobias, Koenig, Jens, Robinson, Peter N, Krawitz, Peter
Veröffentlicht 2014

Respiratory chain deficiency in nonmitochondrial disease

von Pyle, Angela, Nightingale, Helen J., Griffin, Helen, Abicht, Angela, Kirschner, Janbernd, Baric, Ivo, Cuk, Mario, Douroudis, Konstantinos, Feder, Lea, Kratz, Markus, Czermin, Birgit, Kleinle, Stephanie, Santibanez-Koref, Mauro, Karcagi, Veronika, Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita
Veröffentlicht in Neurol Genet (2015)

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

von Seemanova, Eva, Varon, Raymonda, Vejvalka, Jan, Jarolim, Petr, Seeman, Pavel, Chrzanowska, Krystyna H., Digweed, Martin, Resnick, Igor, Kremensky, Ivo, Saar, Kathrin, Hoffmann, Katrin, Dutrannoy, Véronique, Karbasiyan, Mohsen, Ghani, Mehdi, Barić, Ivo, Tekin, Mustafa, Kovacs, Peter, Krawczak, Michael, Reis, André, Sperling, Karl, Nothnagel, Michael
Veröffentlicht in PLoS One (2016)

S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism

von Barić, Ivo, Fumić, Ksenija, Glenn, Byron, Ćuk, Mario, Schulze, Andreas, Finkelstein, James D., James, S. Jill, Mejaški-Bošnjak, Vlatka, Pažanin, Leo, Pogribny, Igor P., Radoš, Marko, Sarnavka, Vladimir, Šćukanec-Špoljar, Mira, Allen, Robert H., Stabler, Sally, Uzelac, Lidija, Vugrek, Oliver, Wagner, Conrad, Zeisel, Steven, Mudd, S. Harvey
Veröffentlicht 2004

The ethical framework for performing research with rare inherited neurometabolic disease patients

von Giannuzzi, Viviana, Devlieger, Hugo, Margari, Lucia, Odlind, Viveca Lena, Ragab, Lamis, Bellettato, Cinzia Maria, D’Avanzo, Francesca, Lampe, Christina, Cassis, Linda, Cortès-Saladelafont, Elisenda, Cazorla, Ángels Garcia, Barić, Ivo, Cvitanović-Šojat, Ljerka, Fumić, Ksenija, Dali, Christine I, Bartoloni, Franco, Bonifazi, Fedele, Scarpa, Maurizio, Ceci, Adriana
Veröffentlicht in Eur J Pediatr (2017)

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

von Mendes, Marisa I, Smith, Desirée EC, Pop, Ana, Lennertz, Pascal, Fernandez Ojeda, Matilde R, Kanhai, Warsha A, van Dooren, Silvy JM, Anikster, Yair, Barić, Ivo, Boelen, Caroline, Campistol, Jaime, de Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T, Vianey‐Saban, Christine, Williams, Monique, Salomons, Gajja S
Veröffentlicht in Hum Mutat (2017)

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

von Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, 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
Veröffentlicht in Am J Hum Genet (2016)

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

von Jumbo-Lucioni, Patricia P., Garber, Kathryn, Kiel, John, Baric, Ivo, Berry, Gerard T., Bosch, Annet, Burlina, Alberto, Chiesa, Ana, Pico, Maria Luz Couce, Estrada, Sylvia C., Henderson, Howard, Leslie, Nancy, Longo, Nicola, Morris, Andrew A. M., Ramirez-Farias, Carlett, Schweitzer-Krantz, Susanne, Silao, Catherine Lynn T., Vela-Amieva, Marcela, Waisbren, Susan, Fridovich-Keil, Judith L.
Veröffentlicht 2012

Current Status of Newborn Screening in Southeastern Europe

von Koracin, Vanesa, Mlinaric, Matej, Baric, Ivo, Brincat, Ian, Djordjevic, Maja, Drole Torkar, Ana, Fumic, Ksenija, Kocova, Mirjana, Milenkovic, Tatjana, Moldovanu, Florentina, Mulliqi Kotori, Vjosa, Nanu, Michaela Iuliana, Remec, Ziga Iztok, Repic Lampret, Barbka, Platis, Dimitrios, Savov, Alexey, Samardzic, Mira, Suzic, Biljana, Szatmari, Ildiko, Toromanovic, Alma, Zerjav Tansek, Mojca, Battelino, Tadej, Groselj, Urh
Veröffentlicht in Front Pediatr (2021)

Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries

von Zerjav Tansek, Mojca, Groselj, Urh, Angelkova, Natalija, Anton, Dana, Baric, Ivo, Djordjevic, Maja, Grimci, Lindita, Ivanova, Maria, Kadam, Adil, Kotori, Vjosa, Maksic, Hajrija, Marginean, Oana, Margineanu, Otilia, Miljanovic, Olivera, Moldovanu, Florentina, Muresan, Mariana, Nanu, Michaela, Samardzic, Mira, Sarnavka, Vladimir, Savov, Aleksei, Stojiljkovic, Maja, Suzic, Biljana, Tincheva, Radka, Tahirovic, Husref, Toromanovic, Alma, Usurelu, Natalia, Battelino, Tadej
Veröffentlicht in Orphanet J Rare Dis (2015)

Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency

von Taylor, Robert W., Pyle, Angela, Griffin, Helen, Blakely, Emma L., Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L., Neeve, Vivienne C., Best, Andrew, Yarham, John W., Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A.M., Vassallo, Grace, Gorman, Grainne S., Ramesh, Venkateswaran, Turnbull, Douglass M., Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F.
Veröffentlicht in JAMA (2014)