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Medientyp
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Autor/in
- Burton, Barbara K
- Berger, Kenneth I 3
- Muschol, Nicole 3
- Harmatz, Paul R 2
- Jones, Simon A 2
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7 Einträge gefunden
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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
- Burton, Barbara K
- Hermida, Álvaro
- Bélanger-Quintana, Amaya
- Bell, Heather
- Bjoraker, Kendra J
- Christ, Shawn E
- Grant, Mitzie L
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The Genetic Landscape and Epidemiology of Phenylketonuria
- Hillert, Alicia
- Anikster, Yair
- Belanger-Quintana, Amaya
- Burlina, Alberto
- Burton, Barbara K
- Carducci, Carla
- Chiesa, Ana E
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Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
- Berger, Kenneth I
- Burton, Barbara K
- Lewis, Gregory D
- Tarnopolsky, Mark
- Harmatz, Paul R
- Mitchell, John J
- Muschol, Nicole
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Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study
- Burton, Barbara K
- Berger, Kenneth I
- Lewis, Gregory D
- Tarnopolsky, Mark
- Treadwell, Marsha
- Mitchell, John J
- Muschol, Nicole
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Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
- Lampe, Christina
- Bosserhoff, Ann-Kathrin
- Burton, Barbara K
- Giugliani, Roberto
- de Souza, Carolina F
- Bittar, Camila
- Muschol, Nicole
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A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
- Ensenauer, Regina
- Vockley, Jerry
- Willard, Jan-Marie
- Huey, Joseph C
- Sass, Jörn Oliver
- Edland, Steven D
- Burton, Barbara K