7 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. The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

   1. Grünert, Sarah C
   2. Eckenweiler, Matthias
   3. Haas, Dorothea
   4. Lindner, Martin
   5. Tsiakas, Konstantinos
   6. Santer, René
   7. Tucci, Sara

   2021 - Forschungsinformationssystem des UKE
3. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

   1. Mütze, Ulrike
   2. Henze, Lucy
   3. Gleich, Florian
   4. Lindner, Martin
   5. Grünert, Sarah C
   6. Spiekerkoetter, Ute
   7. Santer, René

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
4. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

   1. Diez-Fernandez, Carmen
   2. Rüfenacht, Véronique
   3. Santra, Saikat
   4. Lund, Allan M
   5. Santer, René
   6. Lindner, Martin
   7. Tangeraas, Trine

   2016 - Forschungsinformationssystem des UKE
5. Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

   1. Rüegger, Corinne M
   2. Lindner, Martin
   3. Ballhausen, Diana
   4. Baumgartner, Matthias R
   5. Beblo, Skadi
   6. Das, Anibh
   7. Gautschi, Matthias

   2014 - Forschungsinformationssystem des UKE
6. Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

   1. Ho, Sirikit
   2. Lukacs, Zoltan
   3. Hoffmann, Georg F
   4. Lindner, Martin
   5. Wetter, Thomas

   2007 - Forschungsinformationssystem des UKE
7. 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