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Medientyp
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Autor/in
- Freisinger, Peter
- Gramer, Gwendolyn 3
- Marquardt, Thorsten 3
- Santer, René 3
- Thimm, Eva 3
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Sprache
8 Einträge gefunden
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Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
- Mütze, Ulrike
- Garbade, Sven F
- Gleich, Florian
- Lindner, Martin
- Freisinger, Peter
- Hennermann, Julia B
- Thimm, Eva
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Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
- Märtner, E M Charlotte
- Maier, Esther M
- Mengler, Katharina
- Thimm, Eva
- Schiergens, Katharina A
- Marquardt, Thorsten
- Santer, René
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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, multicentre, randomised phase IIIb trial
- Muntau, Ania C
- Burlina, Alberto
- Eyskens, François
- Freisinger, Peter
- Leuzzi, Vincenzo
- Sivri, Hatice Serap
- Gramer, Gwendolyn
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Newborn screening, a disease-changing intervention for glutaric aciduria type 1
- Boy, Nikolas
- Mengler, Katharina
- Thimm, Eva
- Schiergens, Katharina A
- Marquardt, Thorsten
- Weinhold, Natalie
- Marquardt, Iris
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Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
- Muntau, Ania C
- Burlina, Alberto
- Eyskens, François
- Freisinger, Peter
- De Laet, Corinne
- Leuzzi, Vincenzo
- Rutsch, Frank
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Impact of age at onset and newborn screening on outcome in organic acidurias
- Heringer, Jana
- Valayannopoulos, Vassili
- Lund, Allan M
- Wijburg, Frits A
- Freisinger, Peter
- Barić, Ivo
- Baumgartner, Matthias R
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Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature
- Grabhorn, Enke
- Tsiakas, Konstantinos
- Herden, Uta
- Fischer, Lutz
- Freisinger, Peter
- Marquardt, Thorsten
- Ganschow, Rainer
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