6 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. 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. 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. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

   1. Grünert, Sarah C
   2. Stucki, Martin
   3. Morscher, Raphael J
   4. Suormala, Terttu
   5. Bürer, Celine
   6. Burda, Patricie
   7. Christensen, Ernst

   2012 - Forschungsinformationssystem des UKE - frei zugänglich