3 Einträge gefunden

1. Investigating the suitability of high-resolution mass spectrometry for newborn screening:identification of hemoglobinopathies and β-thalassemias in dried blood spots

   1. Wiesinger, Thomas
   2. Mechtler, Thomas
   3. Schwarz, Markus
   4. Xie, Xiaolei
   5. Grosse, Regine
   6. Nieves Cobos, Paulina
   7. Kasper, David

   2020 - Forschungsinformationssystem des UKE
2. At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

   1. Lukacs, Zoltan
   2. Oliva, Petra
   3. Nieves Cobos, Paulina
   4. Scott, Jacob
   5. Mechtler, Thomas P
   6. Kasper, David C

   2020 - Forschungsinformationssystem des UKE
3. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

   1. Lukacs, Zoltan
   2. Nickel, Miriam
   3. Murko, Simona
   4. Nieves Cobos, Paulina
   5. Schulz, Angela
   6. Santer, René
   7. Kohlschütter, Alfried

   2019 - Forschungsinformationssystem des UKE