Search Results - García-Cazorla, Angeles
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1
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders by Posset, Roland (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Nagamani, Sandesh C. S. (Author) , Gropman, Andrea L. (Author) , Epp, Friederike (Author) , Ramdhouni, Nesrine (Author) , Druck, Ann-Catrin (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Zielonka, Matthias (Author) , Schulze, Andreas (Author) , García-Cazorla, Angeles (Author) , Ficicioglu, Can (Author) , Harding, Cary O. (Author) , Lam, Christina (Author) , Coughlin, Curtis R. (Author) , Le Mons, Cynthia (Author) , Wong, Derek (Author) , Dobbelaere, Dries (Author) , Diaz, George A. (Author) , Berry, Gerard T. (Author) , Enns, Gregory M. (Author) , Wilkening, Greta (Author) , Lawrence Merritt, J. (Author) , Seminara, Jennifer (Author) , Konczal, Laura (Author) , Burrage, Lindsay C. (Author) , Breilyn, Margo (Author) , Lindner, Martin (Author) , Baumgartner, Matthias R. (Author) , Mew, Nicholas Ah. (Author) , Gallagher, Renata C. (Author) , McCandless, Shawn E. (Author) , Berry, Susan A. (Author) , Stricker, Tamar (Author) ,
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2
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism by Yıldız, Yılmaz (Author) , Kuseyri Hübschmann, Oya (Author) , Akgöz Karaosmanoğlu, Ayça (Author) , Manti, Filippo (Author) , Karaca, Meryem (Author) , Schwartz, Ida Vanessa (Author) , Pons, Roser (Author) , López-Laso, Eduardo (Author) , Palacios, Natalia Alexandra Julia (Author) , Porta, Francesco (Author) , Kavecan, Ivana (Author) , Balcı, Mehmet Cihan (Author) , Dy-Hollins, Marisela E. (Author) , Wong, Suet-Na (Author) , Oppebøen, Mari (Author) , Medeiros, Leonardo Simão (Author) , de Paula, Leila Cristina Pedroso (Author) , García-Cazorla, Angeles (Author) , Hoffmann, Georg F. (Author) , Jeltsch, Kathrin (Author) , Leuzzi, Vincenzo (Author) , Gökçay, Gülden (Author) , Hübschmann, Daniel (Author) , Harting, Inga (Author) , Özön, Z. Alev (Author) , Sivri, Serap (Author) , Opladen, Thomas (Author) ,
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3
Integrative approach to predict severity in nonketotic hyperglycinemia by Kuseyri Hübschmann, Oya (Author) , Juliá-Palacios, Natalia Alexandra (Author) , Olivella, Mireia (Author) , Guder, Philipp (Author) , Zafeiriou, Dimitrios I. (Author) , Horvath, Gabriela Ana (Author) , Kulhánek, Jan (Author) , Pearson, Toni S. (Author) , Kuster, Alice (Author) , Cortès-Saladelafont, Elisenda (Author) , Ibáñez, Salvador (Author) , García-Jiménez, Maria Concepción (Author) , Honzík, Tomáš (Author) , Santer, René (Author) , Jeltsch, Kathrin (Author) , Garbade, Sven (Author) , Hoffmann, Georg F. (Author) , Opladen, Thomas (Author) , García-Cazorla, Ángeles (Author) ,
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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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5
Brain MR patterns in inherited disorders of monoamine neurotransmitters: an analysis of 70 patients by Kuseyri Hübschmann, Oya (Author) , Mohr, Alexander (Author) , Friedman, Jennifer (Author) , Manti, Filippo (Author) , Horvath, Gabriella (Author) , Cortès-Saladelafont, Elisenda (Author) , Mercimek-Andrews, Saadet (Author) , Yildiz, Yilmaz (Author) , Pons, Roser (Author) , Kulhánek, Jan (Author) , Oppebøen, Mari (Author) , Koht, Jeanette Aimee (Author) , Podzamczer-Valls, Inés (Author) , Domingo-Jimenez, Rosario (Author) , Ibáñez, Salvador (Author) , Alcoverro-Fortuny, Oscar (Author) , Gómez-Alemany, Teresa (Author) , de Castro, Pedro (Author) , Alfonsi, Chiara (Author) , Zafeiriou, Dimitrios I. (Author) , López-Laso, Eduardo (Author) , Guder, Philipp (Author) , Santer, René (Author) , Honzík, Tomáš (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Sivri, H. Serap (Author) , Leuzzi, Vincenzo (Author) , Jeltsch, Kathrin (Author) , García-Cazorla, Angeles (Author) , Opladen, Thomas (Author) , Harting, Inga (Author) ,
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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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7
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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8
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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9
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders by Posset, Roland (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Gropman, Andrea L. (Author) , de Lonlay, Pascale (Author) , Hoffmann, Georg F. (Author) , Garcia-Cazorla, Angeles (Author) , Nagamani, Sandesh C. S. (Author) , Baumgartner, Matthias R. (Author) , Schulze, Andreas (Author) , Dobbelaere, Dries (Author) , Yudkoff, Marc (Author) , Kölker, Stefan (Author) , Zielonka, Matthias (Author) ,
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10
AADCdeficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients by Pearson, Toni S. (Author) , Gilbert, Laura (Author) , Opladen, Thomas (Author) , Garcia-Cazorla, Angeles (Author) , Mastrangelo, Mario (Author) , Leuzzi, Vincenzo (Author) , Tay, Stacy K. H. (Author) , Sykut-Cegielska, Jolanta (Author) , Pons, Roser (Author) , Mercimek-Andrews, Saadet (Author) , Kato, Mitsuhiro (Author) , Luecke, Thomas (Author) , Oppeboen, Mari (Author) , Kurian, Manju A. (Author) , Steel, Dora (Author) , Manti, Filippo (Author) , Meeks, Kathleen D. (Author) , Jeltsch, Kathrin (Author) , Flint, Lisa (Author) ,
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Related Subjects
-IMD
L-citrulline/arginine supplementation
Liver transplantation
MRI
UCDC
Urea cycle disorders
acid decarboxylase deficiency
behavioral phenotype
biogenic amines
cognitive impairment
dystonia-parkinsonism
features
gene therapy
gene-therapy
hyperprolactinemia
hypogonadism
iNTD
inherited neurotransmitter disorders
intelligence
monoamines
natural history
natural-history
neurotransmitter disorders
neurotransmitter deficiencies
neurotransmitter disorders
prolactinoma
quality of life
rare diseases
tetrahydrobiopterin (BH4) deficiency
tetrahydrobiopterin deficiency