Search Results - "Ramadza, Danijela Petković"

Genotype-predicted tetrahydrobiopterin (BH 4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency by Karačić, Iva, Meili, David, Sarnavka, Vladimir, Heintz, Caroline, Thöny, Beat, Ramadža, Danijela Petković, Fumić, Ksenija, Mardešić, Duško, Barić, Ivo, Blau, Nenad

“…Specific mutations in the gene encoding phenylalanine hydroxylase ( PAH), located on chromosome 12q22-24.1, are linked to tetrahydrobiopterin (BH 4;…”
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Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature by Ninković, Dorotea, Sarnavka, Vladimir, Bašnec, Anica, Ćuk, Mario, Ramadža, Danijela Petković, Fumić, Ksenija, Kušec, Vesna, Santer, René, Barić, Ivo

“…Hyperinsulinism-hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease characterized by recurrent hypoglycemia and persistent mild elevation of…”
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Molecular basis and clinical presentation of classic galactosemia in a Croatian population by Ramadža, Danijela Petković, Sarnavka, Vladimir, Vuković, Jurica, Fumić, Ksenija, Krželj, Vjekoslav, Lozić, Bernarda, Pušeljić, Silvija, Pereira, Hana, Silva, Maria João, Tavares de Almeida, Isabel, Barić, Ivo, Rivera, Isabel

“…Classic galactosemia is an autosomal recessive disorder of galactose metabolism caused by severely decreased activity of galactose-1-phosphate…”
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Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study by 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, Petković Ramadža, 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

“…Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders characterised by concurrent hypoplasia of the pons and the cerebellum…”
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Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention by Žigman, Tamara, Petković Ramadža, Danijela, Šimić, Goran, Barić, Ivo

“…Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid…”
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation by Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter

“…Background The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific…”
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype by Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Garcia Cazorla, Angeles

“…Background The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. Aims…”
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Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome by 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, Petković Ramadža, Danijela, Sirchia, Fabio, Giorgio, Elisa, Valente, Enza Maria

“…Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy. Despite exome sequencing (ES), several patients remain undiagnosed. This…”
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan by Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E L M, Schraders, Margit, Altunoglu, Umut, Buckley, Michael F, Brunner, Han G, Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A, Gilissen, Christian, Mancini, Grazia M S, Delrée, Paul, Willemsen, Michèl A, Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A J, Tan-Sindhunata, Gita M B, de Die-Smulders, Christine E, Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L, Lefeber, Dirk J, Lin, Yung-Yao, van Bokhoven, Hans

“…Hans van Bokhoven and colleagues report mutations in the ISPD gene as a cause of Walker-Warburg syndrome. Knockdown of ispd in zebrafish causes hydrocephalus,…”
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Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders by 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.

“…Inherited methylation disorders are a group of rarely reported, probably largely underdiagnosed disorders affecting transmethylation processes in the metabolic…”
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Postauthorization safety study of betaine anhydrous by Mütze, Ulrike, Gleich, Florian, Garbade, Sven F., Plisson, Céline, Aldámiz‐Echevarría, Luis, Arrieta, Francisco, Ballhausen, Diana, Zielonka, Matthias, Petković Ramadža, Danijela, Baumgartner, Matthias R., Cano, Aline, García Jiménez, María Concepción, Dionisi‐Vici, Carlo, Ješina, Pavel, Blom, Henk J., Couce, Maria Luz, Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Morris, Andrew A. M., Mundy, Helen, Redonnet‐Vernhet, Isabelle, Santra, Saikat, Schiff, Manuel, Servais, Aude, Vitoria, Isidro, Huemer, Martina, Kožich, Viktor, Kölker, Stefan

“…Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan…”
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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome by Horn, Denise, Wieczorek, Dagmar, Metcalfe, Kay, Barić, Ivo, Paležac, Lidija, Cuk, Mario, Petković Ramadža, Danijela, Krüger, Ulrike, Demuth, Stephanie, Heinritz, Wolfram, Linden, Tobias, Koenig, Jens, Robinson, Peter N, Krawitz, Peter

“…Three different genes of the glycosylphosphatidylinositol anchor synthesis pathway, PIGV, PIGO, and PGAP2, have recently been implicated in…”
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A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum by Sakaguchi, Tomohiro, Žigman, Tamara, Petković Ramadža, Danijela, Omerza, Lana, Pušeljić, Silvija, Ereš Hrvaćanin, Zrinka, Miyake, Noriko, Matsumoto, Naomichi, Barić, Ivo

“…Biallelic mutations in the post-GPI attachment to proteins 3 ( PGAP3 ) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is…”
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Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report by Zekušić, Marija, Škaričić, Ana, Fumić, Ksenija, Rogić, Dunja, Žigman, Tamara, Petković Ramadža, Danijela, Vukojević, Nenad, Rüfenacht, Véronique, Uroić, Valentina, Barić, Ivo

“…Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive disorder that occurs due to deficiency of the mitochondrial enzyme ornithine…”
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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood by 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

“…To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE,…”
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GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature? by Bayat, Allan, Lindau, Tobias, Aledo‐Serrano, Angel, Gil‐Nagel, Antonio, Barić, Ivo, Bartoniček, Dorotea, Mateševac, Josipa, Ramadža, Danijela Petković, Žigman, Tamara, Pušeljić, Silvija, Dorner, Sanja, Bupp, Caleb, Devries, Seth, Møller, Rikke Steensbjerre

“…Glycosylphosphatidylinositol anchoring disorders (GPI‐ADs) are a subgroup of congenital disorders of glycosylation. GPI biosynthesis requires proteins encoded…”
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Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene by Petković Ramadza, Danijela, Stipoljev, Feodora, Sarnavka, Vladimir, Begović, Davor, Potocki, Kristina, Fumić, Ksenija, Mornet, Etienne, Barić, Ivo

“…Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline…”
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Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency by Šikić, Katarina, Peters, Tessa M. A., Marušić, Eugenija, Čagalj, Ivana Čulo, Ramadža, Danijela Petković, Žigman, Tamara, Fumić, Ksenija, Fernandez, Esperanza, Gevaert, Kris, Debeljak, Željko, Wevers, Ron A., Barić, Ivo

“…Acetyl‐CoA transporter 1 (AT‐1) is a transmembrane protein which regulates influx of acetyl‐CoA from the cytosol to the lumen of the endoplasmic reticulum and…”
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The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey by Stepien, Karolina M., Langendonk, Janneke G., Dao, Myriam, Gomes, Daniel Costa, Douillard, Claire, Filipsson, Karin, Glamuzina, Emma, Haverkamp, Jorien A., Langeveld, Mirjam, Lehman, Anna, Lonlay, Pascale, Lund, Allan M., Oscarson, Mikael, Peltenburg, N. Chantal, Ramadža, Danijela Petković, Ramachandran, Radha, Reismann, Peter, Shtylla, Alboren, Tchan, Michel, Tan, Chong Yew, Wilson, Callum, Woodall, Alison, Murphy, Elaine, Wagenmakers, Margreet A. E. M.

“…An increasing number of women with urea cycle disorders (UCDs) are reaching child‐bearing age and becoming pregnant. Improved diagnostics and increased…”
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Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder by D’Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, 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, Rivière, Jean-Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja

“…Contactin-associated protein-like 2 ( CNTNAP2 ) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and…”
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