5 Einträge gefunden

1. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

   1. Stadler, Sonja C
   2. Polanetz, Roman
   3. Maier, Esther M
   4. Heidenreich, Sylvia C
   5. Niederer, Birgit
   6. Mayerhofer, Peter U
   7. Lagler, Florian

   2006 - Forschungsinformationssystem des UKE
2. Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

   1. Hartwig, Christine
   2. Gal, Andreas
   3. Santer, René
   4. Ullrich, Kurt
   5. Finckh, Ulrich
   6. Kreienkamp, Hans-Jürgen

   2006 - Forschungsinformationssystem des UKE
3. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

   1. Freisinger, Peter
   2. Fütterer, Nancy
   3. Lankes, Erwin
   4. Gempel, Klaus
   5. Berger, Thomas M
   6. Spalinger, Johannes
   7. Hoerbe, Alexandra

   2006 - Forschungsinformationssystem des UKE
4. Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.

   1. Furlan, F
   2. Santer, René
   3. Vismara, E
   4. Santus, F
   5. Sersale, G
   6. Menni, F
   7. Parini, R

   2006 - Forschungsinformationssystem des UKE
5. Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

   1. Lukacs, Zoltan
   2. Santer, René

   2006 - Forschungsinformationssystem des UKE