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. German newborn screening for Cystic fibrosis:Parental perspectives and suggestions for improvements

   1. Gapp, Simon
   2. Garbade, Sven F
   3. Feyh, Patrik
   4. Brockow, Inken
   5. Nennstiel, Uta
   6. Hoffmann, Georg F
   7. Sommerburg, Olaf

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
3. Neonatal screening for isovaleric aciduria:Reducing the increasingly high false-positive rate in Germany

   1. Murko, Simona
   2. Aseman, Asra Dadkhah
   3. Reinhardt, Friederike
   4. Gramer, Gwendolyn
   5. Okun, Jürgen Günther
   6. Mütze, Ulrike
   7. Santer, René

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
4. Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

   1. Schnabel, Elena
   2. Kölker, Stefan
   3. Gleich, Florian
   4. Feyh, Patrik
   5. Hörster, Friederike
   6. Haas, Dorothea
   7. Fang-Hoffmann, Junmin

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
5. Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics

   1. Reischl-Hajiabadi, Anna T
   2. Garbade, Sven F
   3. Feyh, Patrik
   4. Weiss, Karl Heinz
   5. Mütze, Ulrike
   6. Kölker, Stefan
   7. Hoffmann, Georg F

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
6. 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
7. 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
8. Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

   1. Gramer, Gwendolyn
   2. Wolf, Nicole I
   3. Vater, Daniel
   4. Bast, Thomas
   5. Santer, René
   6. Kamsteeg, Erik-Jan
   7. Wevers, Ron A

   2012 - Forschungsinformationssystem des UKE - frei zugänglich