Search Results - Pearson, Toni S.
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1
Gene therapy for aromatic L-amino acid decarboxylase deficiency: requirements for safe application and knowledge-generating follow-up by Roubertie, Agathe (Author) , Opladen, Thomas (Author) , Brennenstuhl, Heiko (Author) , Kuseyri Hübschmann, Oya (Author) , Flint, Lisa (Author) , Willemsen, Michel A. (Author) , Leuzzi, Vincenzo (Author) , Cazorla, Angels Garcia (Author) , Kurian, Manju A. (Author) , François-Heude, Marie Céline (Author) , Hwu, Paul (Author) , Zeev, Bruria Ben (Author) , Kiening, Karl (Author) , Roujeau, Thomas (Author) , Pons, Roser (Author) , Pearson, Toni S. (Author) ,
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2
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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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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5
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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6
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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7
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
gene therapy
AADCD
Aromatic L-amino acid decarboxylase
Eladocagene exuparvovec
acid decarboxylase deficiency
behavioral phenotype
cognitive impairment
dystonia-parkinsonism
features
gene-therapy
iNTD
iNTD registry
intelligence
natural history
natural-history
neurotransmitter
neurotransmitter disorders
neurotransmitter deficiencies
quality of life
rare diseases