Αποτελέσματα αναζήτησης - Ivo Barić

Περιορισμός αποτελεσμάτων
  1. 1
    Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

    Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention από Tamara Žigman, Danijela Petković Ramadža, Goran Šimić, Ivo Barić

    Έκδοση 2021
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
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    Αποθηκεύτηκε σε:
  2. 2
    Long‐Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency

    Long‐Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency από Barbara K. Burton, Alejandra Consuelo Sánchez, М. Н. Костылева, Ana María Martins, Sachin Marulkar, Florian Abel, Ivo Barić

    Έκδοση 2022
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  3. 3
    Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders

    Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders από Ivo Barić, Christian Staufner, Persephone Augoustides‐Savvopoulou, Yin‐Hsiu Chien, Dries Dobbelaere, Sarah C. Grünert, Thomas Opladen, Danijela Petković Ramadža, Bojana Rakić, Anna Wedell, Henk J. Blom

    Έκδοση 2016
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
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    Αποθηκεύτηκε σε:
  4. 4
    <i>S</i>‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

    <i>S</i>‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy από Ivo Barić, M. Ćuk, Ksenija Fumić, Oliver Vugrek, Robert H. Allen, B. Glenn, Miljenka Maradin, Leo Pažanin, Igor P. Pogribny, Milan Radoš, Vladimir Sarnavka, Andreas Schulze, Sally P. Stabler, Conrad Wagner, Steven H. Zeisel, S. Harvey Mudd

    Έκδοση 2005
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  5. 5
    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy από Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons, Annette Feigenbaum, Susan Blasér, Chitra Prasad, Johannes Häberle, Ivo Barić, Ingrid Bakker, Nienke L. Postma, Warsha A. Kanhai, Nicole I. Wolf, Truus E. M. Abbink, Quinten Waisfisz, Peter Heutink, Marjo S. van der Knaap

    Έκδοση 2013
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  6. 6
    Frequency of RET mutations in long- and short-segment Hirschsprung disease

    Frequency of RET mutations in long- and short-segment Hirschsprung disease από Marco Seri, Yin Luo, Virginia Barone, Alessandra Bolino, Iacopo Celli, Renata Bocciardi, Barbara Pasini, Isabella Ceccherini, Margherita Lerone, Ulf Kristoffersson, Lars Torsten Larsson, J M Casasa, Daniel T. Cass, Marc Abramowicz, Jean-Marie Vanderwinden, Ingrida Kravčenkiene, Ivo Barić, Margherita Silengo, Giuseppe Martucciello, Giovanni Romeo

    Έκδοση 1997
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  7. 7
    <i>S</i> -adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism

    <i>S</i> -adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism από Ivo Barić, Ksenija Fumić, B. Glenn, Mario Ćuk, Andreas Schulze, James D. Finkelstein, S. Jill James, Vlatka Mejaški‐Bošnjak, Leo Pažanin, Igor P. Pogribny, Marko Radoš, Vladimir Sarnavka, Mira Šćukanec‐Špoljar, Robert H. Allen, Sally P. Stabler, Lidija Uzelac, Oliver Vugrek, Conrad Wagner, Steven H. Zeisel, S. Harvey Mudd

    Έκδοση 2004
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  8. 8
    Impact of age at onset and newborn screening on outcome in organic acidurias

    Impact of age at onset and newborn screening on outcome in organic acidurias από Jana Herınger, Vassili Valayannopoulos, Allan M. Lund, Frits A. Wijburg, Peter Freisinger, Ivo Barić, Matthias R. Baumgartner, Peter Burgard, Alberto Burlina, Kimberly A. Chapman, Elisenda Cortès i Saladelafont, Daniela Karall, Chris Mühlhausen, Victoria Riches, Manuel Schiff, Jolanta Sykut‐Cegielska, John H. Walter, Jiri Zeman, B. Chabrol, Stefan Kölker

    Έκδοση 2015
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  9. 9
    Comparison of Model‐Predicted and Observed Evinacumab Pharmacokinetics and Efficacy in Children Aged &lt; 5 Years With Homozygous Familial Hypercholesterolemia

    Comparison of Model‐Predicted and Observed Evinacumab Pharmacokinetics and Efficacy in Children Aged &lt; 5 Years With Homozygous Familial Hypercholesterolemia από Sébastien Bihorel, Robert Dingman, Jeanne Mendell, Katy C. Norman, Richard T. De George, Xue‐Qiao Zhao, Robert Pordy, Daniel Fantozzi Garcia, Wendy S. Putnam, Geetha Raghuveer, Brian W. McCrindle, Elena Fornari, Ivo Barić, Shubha Srinivasan, Melissa Diamond, Eliot A. Brinton, John D. Davis, A. Thomas DiCioccio, Lutz Harnisch

    Έκδοση 2025
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  10. 10
    NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

    NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood από Laura S. Kremer, Katharina Danhauser, Diran Herebıan, Danijela Petković Ramadža, Dorota Piekutowska‐Abramczuk, Annette Seibt, Wolfgang Müller‐Felber, Tobias B. Haack, Rafał Płoski, Klaus Lohmeier, Dominik T. Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M. Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A. Mayr, Ivo Barić, Felix Distelmaier, Holger Prokisch

    Έκδοση 2016
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  11. 11
    Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

    Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes από Patricia Jumbo‐Lucioni, Kathryn B. Garber, John Kiel, Ivo Barić, Gerard T. Berry, Annet M. Bosch, Alberto Burlina, Ana Chiesa, María L. Couce, Sylvia C. Estrada, Howard Henderson, Nancy Leslie, Nicola Longo, Andrew A. M. Morris, Carlett Ramirez‐Farias, Susanne Scheweitzer‐Krantz, Catherine Lynn T. Silao, Marcela Vela‐Amieva, Susan E. Waisbren, Judith L. Fridovich‐Keil

    Έκδοση 2012
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  12. 12
    Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries

    Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries από Mojca Žerjav Tanšek, Urh Grošelj, Natalija Angelkova, D Anton, Ivo Barić, Maja Djordjevic, Lindita Grimci, M. Ivanova, Adil Kadam, Vjosa Kotori, Hajrija Maksić, Oana Mărginean, O Mărgineanu, Olivera Miljanović, Florentina Moldovanu, Mariana Mureșan, Michaela Nanu, Mira Samardžić, Vladimir Sarnavka, A. Savov, Maja Stojiljković, Biljana Suzic, Radka Tincheva, Husref Tahirović, Alma Toromanović, Uşurelu Natalia, Tadej Battelino

    Έκδοση 2015
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  13. 13
    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies από Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. M. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloğlu, Ivo Barić, Elke Holinski‐Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A. M. Morris, Grace Vassallo, Gráinne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez‐Koref, Robert McFarland, Rita Horváth, Patrick F. Chinnery

    Έκδοση 2014
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  14. 14
    Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

    Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy από Tobias B. Haack, Christian Staufner, Marlies Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Barić, Patrick McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, J. Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul‐Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch

    Έκδοση 2015
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  15. 15
    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency από Barbara K. Burton, Manisha Balwani, François Feillet, Ivo Barić, T. Burrow, C. Camarena Grande, Mahmut Çöker, Alejandra Consuelo‐Sánchez, Patrick Deegan, Maja Di Rocco, Gregory M. Enns, Richard W. Erbe, Fatih Süheyl Ezgü, Can Fıçıcıoğlu, Katryn N. Furuya, John P. Kane, Christina M. Laukaitis, Eugen Mengel, Edward Neilan, S. L. Nightingale, Heidi Peters, Maurizio Scarpa, Karl Otfried Schwab, Vratislav Smolka, Vassili Valayannopoulos, Marnie J. Wood, Zachary Goodman, Yijun Yang, Stephen Eckert, Sandra Rojas-Caro, Anthony G. Quinn

    Έκδοση 2015
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  16. 16
    Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

    Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism από Matthew N. Wakeling, Nick Owens, Jessica R. Hopkinson, Matthew B. Johnson, Jayne Houghton, Antonia Dastamani, Christine S. Flaxman, Rebecca C. Wyatt, Thomas I. Hewat, Jasmin J. Hopkins, Thomas W. Laver, Rachel van Heugten, Michael N. Weedon, Elisa De Franco, Kashyap Patel, Sian Ellard, Noel G. Morgan, Edmund Cheesman, Indraneel Banerjee, Andrew T. Hattersley, Mark J. Dunne, Ivo Barić, Liat de Vries, Samar S. Hassan, Khadija Nuzhat Humayun, Floris Levy‐Khademi, Catarina Limbert, Birgit Rami‐Merhar, Verónica Mericq, Kristen Neville, Yasmine Ouarezki, Ana Tangari, Charles F. Verge, Esko Wiltshire, Sarah J. Richardson, Sarah E. Flanagan

    Έκδοση 2022
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  17. 17
    Brain function in classic galactosemia, a galactosemia network (GalNet) members review

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

    Έκδοση 2024
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  18. 18
    Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

    Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients από Christian Staufner, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić, Pierre Broué, Fatma Derya Bulut, Joseph A. Church, Ellen Crushell, Buket Dalgıç, Anibh M. Das, Anke Dick, Nicola Dikow, Carlo Dionisi‐Vici, Felix Distelmaier, Neslihan Ekşi Bozbulut, François Feillet, Emmanuel Gonzalès, Nedim Hadžić, Fabian Hauck, Robert Hegarty, Maja Hempel, Theresia Herget, Christoph Klein, Vassiliki Konstantopoulou, Robert Kopajtich, Alice Kuster, Martin W. Laaß, Elke Lainka, Catherine Larson‐Nath, Alexander Leibner, Eberhard Lurz, Johannes A. Mayr, Patrick McKiernan, Karine Mention, Ute Moog, Neslihan Önenli Mungan, Korbinian M. Riedhammer, René Santer, Irene Valenzuela, Jerry Vockley, Dominik S. Westphal, Arnaud Wiedemann, Saskia B. Wortmann, Gaurav D. Diwan, Robert B. Russell, Holger Prokisch, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Dominic Lenz

    Έκδοση 2019
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  19. 19
    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study από Marjan E. Steenweg, Cornelis Jakobs, Abdellatif Errami, Silvy J.M. van Dooren, Maria T. Adeva Bartolomé, Peter Aerssens, Persephone Augoustides-Savvapoulou, Ivo Barić, Matthias Baumann, Luisa Bonafé, B. Chabrol, Joe T.R. Clarke, Peter T. Clayton, Mahmut Çöker, Sarah Cooper, Tzipora C. Falik‐Zaccai, Mark Gorman, Andreas Hahn, Alev Hasanoğlu, Mary D. King, Hans B.C. de Klerk, Stanley H. Korman, Céline Lee, Allan M. Lund, Vlatka Mejaški‐Bošnjak, I Pascual-Castroviejo, Aparna Raadhyaksha, Terje Rootwelt, Agathe Roubertie, María Luz Ruiz-Falcó, Emmanuel Scalais, Ulf Schimmel, Manuel Seijo‐Martínez, Mohnish Suri, Jolanta Sykut‐Cegielska, Friedrich K. Trefz, Graziella Uziel, Vassili Valayannopoulos, Christine Vianey‐Saban, S Vlaho, Julia Vodopiutz, Moacır Wajner, John H. Walter, Claudia Walter-Derbort, Zühal Yapıcı, Dimitrios Zafeiriou, Marieke D. Spreeuwenberg, Jacopo Celli, Johan T. den Dunnen, Marjo S. van der Knaap, Gajja S. Salomons

    Έκδοση 2010
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
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    Αποθηκεύτηκε σε:
  20. 20
    Newborn screening for homocystinurias: Recent recommendations versus current practice

    Newborn screening for homocystinurias: Recent recommendations versus current practice από Rebecca Keller, Petr Chrastina, Markéta Pavlı́ková, Sofía Gouveia, Antònia Ribes, Stefan Kölker, Henk J. Blom, Matthias R. Baumgartner, Josef Bártl, Carlo Dionisi‐Vici, Florian Gleich, Andrew A. M. Morris, Viktor Kožich, Martina Huemer, Ivo Barić, Tawfeq Ben‐Omran, Javier Blasco‐Alonso, María Andrea Delgado, Claudia Carducci, Michela Cassanello, R. Cerone, María L. Couce, Ellen Crushell, Carmen Delgado Pecellín, Elena Dulín, Mercedes Espada, Giulio Ferino, Ralph Fingerhut, I. García Jiménez, Immaculada Gonzalez Gallego, Yolanda González, Gwendolyn Gramer, María Jesús Juan Fita, Eszter Karg, Jeanette Klein, Vassiliki Konstantopoulou, Giancarlo la Marca, Elisa Leão Teles, Vincenzo Leuzzi, Franco Lilliu, Rosa María López, Allan M. Lund, Philip Mayne, Silvia Meavilla, Stuart J. Moat, Jürgen G. Okun, Elisabeta Pasquini, Consuelo Pedrón‐Giner, Gábor Rácz, María Ángeles Ruiz Gómez, Laura Vilarinho, Raquel Yahyaoui, Moja Zerjav Tansek, Rolf Zetterström, Maximilian Zeyda

    Έκδοση 2019
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

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