7 Einträge gefunden

1. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

   1. Ensenauer, Regina
   2. Vockley, Jerry
   3. Willard, Jan-Marie
   4. Huey, Joseph C
   5. Sass, Jörn Oliver
   6. Edland, Steven D
   7. Burton, Barbara K

   2004 - Forschungsinformationssystem des UKE
2. Long-term outcome of renal glucosuria type 0: the original patient and his natural history.

   1. Scholl-Bürgi, Sabine
   2. Santer, René
   3. Ehrich, Jochen H H

   2004 - Forschungsinformationssystem des UKE
3. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

   1. Gordon, Marilyn M
   2. Brada, Nancy
   3. Remacha, Angel
   4. Badell, Isabel
   5. Elisabeth, Del Río
   6. Baiget, Montserrat
   7. Santer, René

   2004 - Forschungsinformationssystem des UKE
4. Nephrolithiasis in a child with glucose-galactose malabsorption.

   1. Tasic, Velibor
   2. Slaveska, Nevenka
   3. Blau, Nenad
   4. Santer, René

   2004 - Forschungsinformationssystem des UKE
5. Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.

   1. Meissner, Thomas
   2. Mayatepek, Ertan
   3. Kinner, Martina
   4. Santer, René

   2004 - Forschungsinformationssystem des UKE
6. The boy with massive glucosuria.

   1. Sarkissian, Ashot
   2. Santer, René
   3. Steinmann, Beat
   4. Amaryan, Gayane
   5. Leumann, Ernst

   2004 - Forschungsinformationssystem des UKE
7. A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.

   1. Peduto, A
   2. Spada, M
   3. Alluto, A
   4. La Dolcetta, M
   5. Ponzone, A
   6. Santer, René

   2004 - Forschungsinformationssystem des UKE