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- Muntau, Ania C
- Gersting, Søren W 12
- Burlina, Alberto 7
- Lotz-Havla, Amelie S 7
- Feillet, François 6
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31 Einträge gefunden
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Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria:literature review and expert opinion
- Merkel, Martin
- Berg, Daniela
- Brüggemann, Norbert
- Classen, Joseph
- Mainka, Tina
- Zittel, Simone
- Muntau, Ania C
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Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
- Barroso, Madalena
- Gertzen, Marcus
- Puchwein-Schwepcke, Alexandra F
- Preisler, Heike
- Sturm, Andreas
- Reiss, Dunja D
- Danecka, Marta K
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Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers
2021 - Forschungsinformationssystem des UKE - frei zugänglich -
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency
- Lotz-Havla, Amelie S
- Woidy, Mathias
- Guder, Philipp
- Schmiesing, Jessica
- Erdmann, Ralf
- Waterham, Hans R
- Muntau, Ania C
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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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Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data
- Trefz, Friedrich
- Muntau, Ania C
- Schneider, Kim M
- Altevers, Julia
- Jacob, Christian
- Braun, Sebastian
- Greiner, Wolfgang
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Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age
2018 - Forschungsinformationssystem des UKE - frei zugänglich -
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Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism
- Eichinger, Anna
- Danecka, Marta K
- Möglich, Tamara
- Borsch, Julia
- Woidy, Mathias
- Büttner, Lars
- Muntau, Ania C
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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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Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture
- Schmiesing, Jessica
- Lohmöller, Benjamin
- Schweizer, Michaela
- Tidow, Henning
- Gersting, Søren W
- Muntau, Ania C
- Braulke, Thomas
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Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results: survey results
- Giżewska, Maria
- MacDonald, Anita
- Bélanger-Quintana, Amaya
- Burlina, Alberto
- Cleary, Maureen
- Coşkun, Turgay
- Feillet, François
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Homooligomerization of ABCA3 and its functional significance
- Frixel, Sabrina
- Lotz-Havla, Amelie S
- Kern, Sunčana
- Kaltenborn, Eva
- Wittmann, Thomas
- Gersting, Søren W
- Muntau, Ania C
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A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
- Santer, René
- du Moulin, Marcel
- Shahinyan, Tatevik
- Vater, Inga
- Maier, Esther
- Muntau, Ania C
- Steinmann, Beat
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The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin
- Trefz, Friedrich K
- Muntau, Ania C
- Lagler, Florian B
- Moreau, Flavie
- Alm, Jan
- Burlina, Alberto
- Rutsch, Frank
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