4 Einträge gefunden

1. 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
2. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

   1. Schneeberger, Pauline E
   2. von Elsner, Leonie
   3. Barker, Emma L
   4. Meinecke, Peter
   5. Marquardt, Iris
   6. Alawi, Malik
   7. Steindl, Katharina

   2020 - Forschungsinformationssystem des UKE
3. 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
4. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

   1. Kortüm, Fanny
   2. Marquardt, Iris
   3. Alawi, Malik
   4. Korenke, Georg Christoph
   5. Spranger, Stephanie
   6. Meinecke, Peter
   7. Kutsche, Kerstin

   2017 - Forschungsinformationssystem des UKE