Ohcanbohtosat - Serap Sivri
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1
Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria Dahkki Júlio César Rocha, Kirsten Ahring, Heather Bausell, Deborah A. Bilder, Cary O. Harding, Anita Inwood, Nicola Longo, Ania C. Muntau, André Luiz Santos Pessoa, Fran Rohr, Serap Sivri, Á. Hermida Ameijeiras
Almmustuhtton 2023Artigo -
2
Meta-analysis of bone mineral density in adults with phenylketonuria Dahkki Júlio César Rocha, Á. Hermida Ameijeiras, Cheryl J Jones, Yunchou Wu, Gillian E. Clague, Sarah Rose, Kaleigh Bulloch Whitehall, Kirsten Ahring, André Luiz Santos Pessoa, Cary O. Harding, Fran Rohr, Anita Inwood, Nicola Longo, Ania C. Muntau, Serap Sivri, F. Maillot
Almmustuhtton 2024Revisão -
3
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria Dahkki Kaleigh Bulloch Whitehall, Sarah Rose, Gillian E. Clague, Kirsten Ahring, Deborah A. Bilder, Cary O. Harding, Á. Hermida Ameijeiras, Anita Inwood, Nicola Longo, F. Maillot, Ania C. Muntau, André Luiz Santos Pessoa, Júlio César Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring
Almmustuhtton 2024Revisão -
4
Understanding the Early Presentation of Mucopolysaccharidoses Disorders Dahkki Lorne A. Clarke, Carolyn Ellaway, Helen Foster, Roberto Giugliani, Cyril Goizet, Sarah Goring, Sara M. Hawley, Elaina Jurecki, Zaeem Khan, Christina Lampe, Ken Martin, Suzanne McMullen, John J. Mitchell, Fathima Mubarack, Serap Sivri, Martha Solano Villarreal, Fiona Stewart, Anna Tylki‐Szymańska, Klane K. White, Frits A. Wijburg
Almmustuhtton 2018Artigo -
5
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency Dahkki Natalia Juliá‐Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horváth, Thomas Lücke, Cheuk Wing Fung, Suet‐Na Wong, Elisenda Cortès‐Saladelafont, M. Mar Rovira‐Remisa, Yılmaz Yıldız, Saadet Mercimek‐Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung‐Klawitter, Kathrin Jeltsch, Serap Sivri, Sven F. Garbade, Àngels García‐Cazorla, Thomas Opladen
Almmustuhtton 2024Artigo -
6
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach Dahkki Barbara K. Burton, Á. Hermida Ameijeiras, Amaya Bélanger-Quintana, Heather Bell, Kendra Bjoraker, Shawn E. Christ, Mitzie Grant, Cary O. Harding, Stephan C. J. Huijbregts, Nicola Longo, Markey McNutt, Mina Nguyen‐Driver, André Luiz Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez‐Valle, Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle, Ania C. Muntau
Almmustuhtton 2022Artigo -
7
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies Dahkki Thomas Opladen, Eduardo López‐Laso, Elisenda Cortès‐Saladelafont, Toni S. Pearson, Serap Sivri, Yılmaz Yıldız, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Ángeles García‐Cazorla, Tomáš Honzík, Roser Pons, Luc Régal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horváth, Beat Thöny, Sabine Scholl‐Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann
Almmustuhtton 2020Revisão -
8
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism Dahkki Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, Filippo Manti, Meryem Karaca, Ida Vanessa Döederlein Schwartz, Roser Pons, Eduardo López‐Laso, Natalia Alexandra Julia Palacios, Francesco Porta, Ivana Kavečan, Mehmet Cihan Balcı, Marisela Dy-Hollins, Suet‐Na Wong, Mari Oppebøen, Leonardo Simão Medeiros, Leila Cristina Pedroso de Paula, Ángeles García‐Cazorla, Georg F. Hoffmann, Kathrin Jeltsch, Vincenzo Leuzzi, Gülden Gökçay, Daniel Hübschmann, Inga Harting, Zeynep Alev Özön, Serap Sivri, Thomas Opladen
Almmustuhtton 2023Artigo
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Phenylalanine
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Biopterin
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