6 Einträge gefunden

1. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

   1. Ferrari, Gianfrancesco
   2. Lamantea, Eleonora
   3. Donati, Alice
   4. Filosto, Massimiliano
   5. Briem, Egill
   6. Carrara, Franco
   7. Parini, Rossella

   2005 - Forschungsinformationssystem des UKE
2. Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.

   1. Berry, Gerard T
   2. Baynes, John W
   3. Wells-Knecht, Kevin J
   4. Szwergold, Benjamin S
   5. Santer, René

   2005 - Forschungsinformationssystem des UKE
3. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

   1. Aretz, Stefan
   2. Stienen, Dietlinde
   3. Uhlhaas, Siegfried
   4. Loff, Steffan
   5. Back, Walter
   6. Pagenstecher, Constanze
   7. McLeod, D Ross

   2005 - Forschungsinformationssystem des UKE
4. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

   1. Santer, René
   2. Gokçay, G
   3. Demirkol, M
   4. Gal, Andreas
   5. Lukacs, Z

   2005 - Forschungsinformationssystem des UKE
5. A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

   1. van Diggelen, O P
   2. Voznyi, Ya V
   3. Keulemans, J L M
   4. Schoonderwoerd, K
   5. Ledvinova, J
   6. Mengel, E
   7. Zschiesche, M

   2005 - Forschungsinformationssystem des UKE
6. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

   1. Santer, René
   2. Rischewski, Johannes
   3. von Weihe, Michaela
   4. Niederhaus, Marko
   5. Schneppenheim, Sonja
   6. Baerlocher, Kurt
   7. Kohlschütter, Alfried

   2005 - Forschungsinformationssystem des UKE