Search Results - Burlina, Alberto

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  1. 1
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    Efficacy and safety of sapropterin before and during pregnancy: final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Devel... by Feillet, François (Author) , Ficicioglu, Can (Author) , Lagler, Florian B. (Author) , Longo, Nicola (Author) , Muntau, Ania C. (Author) , Burlina, Alberto (Author) , Trefz, Friedrich K. (Author) , van Spronsen, Francjan J. (Author) , Arnoux, Jean-Baptiste (Author) , Lindstrom, Kristin (Author) , Lilienstein, Joshua (Author) , Clague, Gillian E. (Author) , Rowell, Richard (Author) , Burton, Barbara K. (Author) ,


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  2. 2
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    Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b by Grünert, Sarah (Author) , Gautschi, Matthias (Author) , Baker, Joshua (Author) , Boyer, Monica (Author) , Burlina, Alberto (Author) , Casswall, Thomas (Author) , Corpeleijn, Willemijn (Author) , Çıki, Kismet (Author) , Cotter, Melanie (Author) , Crushell, Ellen (Author) , Derks, Terry G. J. (Author) , Haas, Dorothea (Author) , Kilavuz, Sebile (Author) , Kingma, Sandra D. K. (Author) , Korman, Stanley H. (Author) , Kozek, Anne (Author) , de Laet, Corinne (Author) , Mundy, Helen (Author) , Nassogne, Marie Cecile (Author) , Quintero, Victor (Author) , Rossi, Alessandro (Author) , Spenger, Johannes (Author) , Spiegel, Ronen (Author) , Stephenne, Xavier (Author) , Stojkov, Darko (Author) , Tal, Galit (Author) , Veiga-da Cunha, Maria (Author) , Wortmann, Saskia B. (Author) ,


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  3. 3
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    Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire by Grünert, Sarah (Author) , Derks, Terry G. J. (Author) , Adrian, Katarina (Author) , Al-Thihli, Khalid (Author) , Ballhausen, Diana (Author) , Bidiuk, Joanna (Author) , Bordugo, Andrea (Author) , Boyer, Monica (Author) , Bratkovic, Drago (Author) , Brunner-Krainz, Michaela (Author) , Burlina, Alberto (Author) , Chakrapani, Anupam (Author) , Corpeleijn, Willemijn (Author) , Cozens, Alison (Author) , Dawson, Charlotte (Author) , Dhamko, Helena (Author) , Milosevic, Maja Djordjevic (Author) , Eiroa, Hernan (Author) , Finezilber, Yael (Author) , Moura de Souza, Carolina Fischinger (Author) , Garcia-Jiménez, Maria Concepción (Author) , Gasperini, Serena (Author) , Haas, Dorothea (Author) , Häberle, Johannes (Author) , Halligan, Rebecca (Author) , Fung, Law Hiu (Author) , Hörbe-Blindt, Alexandra (Author) , Horka, Laura Maria (Author) , Huemer, Martina (Author) , Uçar, Sema Kalkan (Author) , Kecman, Bozica (Author) , Kilavuz, Sebile (Author) , Kriván, Gergely (Author) , Lindner, Martin (Author) , Lüsebrink, Natalia (Author) , Makrilakis, Konstantinos (Author) , Mei-Kwun Kwok, Anne (Author) , Maier, Esther M. (Author) , Maiorana, Arianna (Author) , McCandless, Shawn E. (Author) , Mitchell, John James (Author) , Mizumoto, Hiroshi (Author) , Mundy, Helen (Author) , Ochoa, Carlos (Author) , Pierce, Kathryn (Author) , Fraile, Pilar Quijada (Author) , Regier, Debra (Author) , Rossi, Alessandro (Author) , Santer, René (Author) , Schuman, Hester C. (Author) , Sobieraj, Piotr (Author) , Spenger, Johannes (Author) , Spiegel, Ronen (Author) , Stepien, Karolina M. (Author) , Tal, Galit (Author) , Tanšek, Mojca Zerjav (Author) , Torkar, Ana Drole (Author) , Tchan, Michel (Author) , Thyagu, Santhosh (Author) , Schrier Vergano, Samantha A. (Author) , Vucko, Erika (Author) , Weinhold, Natalie (Author) , Zsidegh, Petra (Author) , Wortmann, Saskia B. (Author) ,


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  4. 4
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    Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: the northeastern Italian experience by Burlina, Alberto (Author) , Giuliani, Antonella (Author) , Polo, Giulia (Author) , Gueraldi, Daniela (Author) , Gragnaniello, Vincenza (Author) , Cazzorla, Chiara (Author) , Opladen, Thomas (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) , Burlina, Alessandro P. (Author) ,


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  5. 5
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    Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label... by Muntau, Ania (Author) , Burlina, Alberto (Author) , Eyskens, François (Author) , Freisinger, Peter (Author) , Leuzzi, Vincenzo (Author) , Sivri, Hatice Serap (Author) , Gramer, Gwendolyn (Author) , Pazdírková, Renata (Author) , Cleary, Maureen (Author) , Lotz-Havla, Amelia S. (Author) , Lane, Paul (Author) , Alvarez, Ignacio (Author) , Rutsch, Frank (Author) ,


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  6. 6
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    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines by Kuseyri Hübschmann, Oya (Author) , Horvath, Gabriella (Author) , Cortès-Saladelafont, Elisenda (Author) , Yıldız, Yılmaz (Author) , Pons, Roser (Author) , Friedman, Jennifer (Author) , Mercimek-Andrews, Saadet (Author) , Wong, Suet-Na (Author) , Pearson, Toni S. (Author) , Zafeiriou, Dimitrios I. (Author) , Kulhánek, Jan (Author) , Kurian, Manju A. (Author) , López-Laso, Eduardo (Author) , Oppebøen, Mari (Author) , Kılavuz, Sebile (Author) , Wassenberg, Tessa (Author) , Goez, Helly (Author) , Scholl-Bürgi, Sabine (Author) , Porta, Francesco (Author) , Honzík, Tomáš (Author) , Santer, René (Author) , Burlina, Alberto (Author) , Sivri, H. Serap (Author) , Leuzzi, Vincenzo (Author) , Hoffmann, Georg F. (Author) , Jeltsch, Kathrin (Author) , Hübschmann, Daniel (Author) , Garbade, Sven F. (Author) , Assmann, Birgit (Author) , Fung, Cheuk-Wing (Author) , Guder, Philipp (Author) , Hong, Stacey Tay Kiat (Author) , Karall, Daniela (Author) , Kato, Mitsuhiro (Author) , Kavecan, Ivana (Author) , Koht, Jeanette Aimee (Author) , Kuster, Alice (Author) , Lücke, Thomas (Author) , Manti, Filippo (Author) , Mir, Pablo (Author) , Mühlhausen, Chris (Author) , Önenli Mungan, Halise Neslihan (Author) , Palacios, Natalia Alexandra Julia (Author) , Ramos, Joaquín Alejandro Fernández (Author) , Steel, Dora (Author) , Stevanović, Galina (Author) , Sykut-Cegielska, Jolanta (Author) , Verbeek, Marcel M. (Author) , García-Cazorla, Angeles (Author) , Opladen, Thomas (Author) ,


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  7. 7
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    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry by Keller, Mareike (Author) , Brennenstuhl, Heiko (Author) , Kuseyri Hübschmann, Oya (Author) , Manti, Filippo (Author) , Julia Palacios, Natalia Alexandra (Author) , Friedman, Jennifer R. (Author) , Yıldız, Yılmaz (Author) , Koht, Jeanette Aimee (Author) , Wong, Suet-Na (Author) , Zafeiriou, Dimitrios I. (Author) , López-Laso, Eduardo (Author) , Pons, Roser (Author) , Kulhánek, Jan (Author) , Jeltsch, Kathrin (Author) , Serrano-Lomelin, Jesus (Author) , Garbade, Sven (Author) , Opladen, Thomas (Author) , Goez, Helly (Author) , Burlina, Alberto (Author) , Cortès-Saladelafont, Elisenda (Author) , Fernández Ramos, Joaquín Alejandro (Author) , García-Cazorla, Angeles (Author) , Hoffmann, Georg F. (Author) , Kiat Hong, Stacey Tay (Author) , Honzík, Tomáš (Author) , Kavecan, Ivana (Author) , Kurian, Manju A. (Author) , Leuzzi, Vincenzo (Author) , Lücke, Thomas (Author) , Manzoni, Francesca (Author) , Mastrangelo, Mario (Author) , Mercimek-Andrews, Saadet (Author) , Mir, Pablo (Author) , Oppebøen, Mari (Author) , Pearson, Toni S. (Author) , Sivri, H. Serap (Author) , Steel, Dora (Author) , Stevanović, Galina (Author) , Fung, Cheuk-Wing (Author) ,


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  8. 8
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    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Opladen, Thomas (Author) , López-Laso, Eduardo (Author) , Cortès-Saladelafont, Elisenda (Author) , Pearson, Toni S. (Author) , Sivri, H. Serap (Author) , Yildiz, Yilmaz (Author) , Assmann, Birgit (Author) , Kurian, Manju A. (Author) , Leuzzi, Vincenzo (Author) , Heales, Simon (Author) , Pope, Simon (Author) , Porta, Francesco (Author) , García-Cazorla, Angeles (Author) , Honzík, Tomáš (Author) , Pons, Roser (Author) , Regal, Luc (Author) , Goez, Helly (Author) , Artuch, Rafael (Author) , Hoffmann, Georg F. (Author) , Horvath, Gabriella (Author) , Thöny, Beat (Author) , Scholl-Bürgi, Sabine (Author) , Burlina, Alberto (Author) , Verbeek, Marcel M. (Author) , Mastrangelo, Mario (Author) , Friedman, Jennifer (Author) , Wassenberg, Tessa (Author) , Jeltsch, Kathrin (Author) , Kulhánek, Jan (Author) , Kuseyri Hübschmann, Oya (Author) ,


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  9. 9
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    Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Opladen, Thomas (Author) , López-Laso, Eduardo (Author) , Cortès-Saladelafont, Elisenda (Author) , Pearson, Toni S. (Author) , Sivri, H. Serap (Author) , Yildiz, Yilmaz (Author) , Assmann, Birgit (Author) , Kurian, Manju A. (Author) , Leuzzi, Vincenzo (Author) , Heales, Simon (Author) , Pope, Simon (Author) , Porta, Francesco (Author) , García-Cazorla, Angeles (Author) , Honzík, Tomáš (Author) , Pons, Roser (Author) , Regal, Luc (Author) , Goez, Helly (Author) , Artuch, Rafael (Author) , Hoffmann, Georg F. (Author) , Horvath, Gabriella (Author) , Thöny, Beat (Author) , Scholl-Bürgi, Sabine (Author) , Burlina, Alberto (Author) , Verbeek, Marcel M. (Author) , Mastrangelo, Mario (Author) , Friedman, Jennifer (Author) , Wassenberg, Tessa (Author) , Jeltsch, Kathrin (Author) , Kulhánek, Jan (Author) , Kuseyri Hübschmann, Oya (Author) ,


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  10. 10
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    Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results by Giżewska, Maria (Author) , MacDonald, Anita (Author) , Bélanger-Quintana, Amaya (Author) , Burlina, Alberto (Author) , Cleary, Maureen (Author) , Coşkun, Turgay (Author) , Feillet, François (Author) , Muntau, Ania C. (Author) , Trefz, Friedrich K. (Author) , van Spronsen, Francjan J. (Author) , Blau, Nenad (Author) ,


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  11. 11
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    The Kuvan® adult maternal paediatric European registry (KAMPER) multinational observational study: baseline and 1-Year data in phenylketonuria patients responsive to sapropterin by Trefz, Friedrich K. (Author) , Muntau, Ania (Author) , Lagler, Florian Bartholomäus (Author) , Moreau, Flavie (Author) , Alm, Jan (Author) , Burlina, Alberto (Author) , Rutsch, Frank (Author) , Bélanger-Quintana, Amaya (Author) , Feillet, François (Author) ,


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  12. 12
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    Clinical presentation and outcome in a series of 88 patients with the cblC defect by Knauer-Fischer, Sabine (Author) , Huemer, Martina (Author) , Baumgartner, Matthias (Author) , Deodato, Federica (Author) , Ballhausen, Diana (Author) , Boneh, Avihu (Author) , Burlina, Alberto (Author) , Cerone, Roberto (Author) , Garcia, Paula (Author) , Gökçay, Gülden (Author) , Grünewald, Stephanie (Author) , Häberle, Johannes (Author) , Jaeken, Jaak (Author) , Ketteridge, David (Author) , Lindner, Martin (Author) , Mandel, Hanna (Author) , Martinelli, Diego (Author) , Martins, Esmeralda G. (Author) , Schwab, Karl O. (Author) , Gruenert, Sarah C. (Author) , Schwahn, Bernd C. (Author) , Sztriha, László (Author) , Tomaske, Maren (Author) , Trefz, Friedrich (Author) , Vilarinho, Laura (Author) , Rosenblatt, David S. (Author) , Fowler, Brian (Author) , Dionisi‐Vici, Carlo (Author) ,


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  13. 13
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    Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study by Keil, Stefanie (Author) , Anjema, Karen (Author) , Spronsen, Francjan J. van (Author) , Lambruschini, Nilo (Author) , Burlina, Alberto (Author) , Bélanger-Quintana, Amaya (Author) , Couce, Maria L. (Author) , Feillet, Francois (Author) , Cerone, Roberto (Author) , Lotz-Havla, Amelie S. (Author) , Muntau, Ania C. (Author) , Bosch, Annet M. (Author) , Meli, Concetta A. P. (Author) , Villemeur, Thierry Billette de (Author) , Kern, Ilse (Author) , Riva, Enrica (Author) , Giovannini, Marcello (Author) , Damaj, Lena (Author) , Leuzzi, Vincenzo (Author) , Blau, Nenad (Author) ,


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  14. 14
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    Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes by Cleary, Maureen (Author) , Trefz, Friedrich (Author) , Muntau, Ania C. (Author) , Feillet, François (Author) , van Spronsen, Francjan J. (Author) , Burlina, Alberto (Author) , Bélanger-Quintana, Amaya (Author) , Giżewska, Maria (Author) , Gasteyger, Christoph (Author) , Bettiol, Esther (Author) , Blau, Nenad (Author) , MacDonald, Anita (Author) ,


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  15. 15
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    Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis by Willemsen, Michèl A. (Author) , Verbeek, Marcel M. (Author) , Kamsteeg, Erik-Jan (Author) , Rijk-van Andel, Johanneke F. de (Author) , Aeby, Alec (Author) , Blau, Nenad (Author) , Burlina, Alberto (Author) , Donati, Maria A. (Author) , Geurtz, Ben (Author) , Grattan-Smith, Padraic J. (Author) , Haeussler, Martin (Author) , Hoffmann, Georg F. (Author) , Jung, Hans (Author) , Klerk, Johannis B. de (Author) , Van der Knaap, Marjo S. (Author) , Kok, Fernando (Author) , Leuzzi, Vincenzo (Author) , Lonlay, Pascale de (Author) , Megarbane, Andre (Author) , Monaghan, Hugh (Author) , Renier, Willy O. (Author) , Rondot, Pierre (Author) , Ryan, Monique M. (Author) , Seeger, Jürgen (Author) , Smeitink, Jan A. (Author) , Steenbergen-Spanjers, Gerry C. (Author) , Wassmer, Evangeline (Author) , Weschke, Bernhard (Author) , Wijburg, Frits A. (Author) , Wilcken, Bridget (Author) , Zafeiriou, Dimitrios I. (Author) , Wevers, Ron A. (Author) ,


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