8 Einträge gefunden

1. Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

   1. Mütze, Ulrike
   2. Garbade, Sven F
   3. Gleich, Florian
   4. Lindner, Martin
   5. Freisinger, Peter
   6. Hennermann, Julia B
   7. Thimm, Eva

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
2. 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

   1. Muntau, Ania C
   2. Burlina, Alberto
   3. Eyskens, François
   4. Freisinger, Peter
   5. Leuzzi, Vincenzo
   6. Sivri, Hatice Serap
   7. Gramer, Gwendolyn

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
3. Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study

   1. Märtner, E M Charlotte
   2. Maier, Esther M
   3. Mengler, Katharina
   4. Thimm, Eva
   5. Schiergens, Katharina A
   6. Marquardt, Thorsten
   7. Santer, René

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
4. Newborn screening, a disease-changing intervention for glutaric aciduria type 1

   1. Boy, Nikolas
   2. Mengler, Katharina
   3. Thimm, Eva
   4. Schiergens, Katharina A
   5. Marquardt, Thorsten
   6. Weinhold, Natalie
   7. Marquardt, Iris

   2018 - Forschungsinformationssystem des UKE
5. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

   1. Muntau, Ania C
   2. Burlina, Alberto
   3. Eyskens, François
   4. Freisinger, Peter
   5. De Laet, Corinne
   6. Leuzzi, Vincenzo
   7. Rutsch, Frank

   2017 - Forschungsinformationssystem des UKE - frei zugänglich
6. Impact of age at onset and newborn screening on outcome in organic acidurias

   1. Heringer, Jana
   2. Valayannopoulos, Vassili
   3. Lund, Allan M
   4. Wijburg, Frits A
   5. Freisinger, Peter
   6. Barić, Ivo
   7. Baumgartner, Matthias R

   2016 - Forschungsinformationssystem des UKE
7. Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature

   1. Grabhorn, Enke
   2. Tsiakas, Konstantinos
   3. Herden, Uta
   4. Fischer, Lutz
   5. Freisinger, Peter
   6. Marquardt, Thorsten
   7. Ganschow, Rainer

   2014 - Forschungsinformationssystem des UKE
8. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

   1. Freisinger, Peter
   2. Fütterer, Nancy
   3. Lankes, Erwin
   4. Gempel, Klaus
   5. Berger, Thomas M
   6. Spalinger, Johannes
   7. Hoerbe, Alexandra

   2006 - Forschungsinformationssystem des UKE