9 Einträge gefunden

1. Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

   1. Mütze, Ulrike
   2. Garbade, Sven F
   3. Gleich, Florian
   4. Lindner, Martin
   5. Freisinger, Peter
   6. Hennermann, Julia B
   7. Thimm, Eva

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
2. Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)

   1. Lenders, Malte
   2. Nordbeck, Peter
   3. Kurschat, Christine
   4. Eveslage, Maria
   5. Karabul, Nesrin
   6. Kaufeld, Jessica
   7. Hennermann, Julia B

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

   1. Holzwarth, Johanna
   2. Minopoli, Nadja
   3. Pfrimmer, Charlotte
   4. Smitka, Martin
   5. Borrel, Sabine
   6. Kirschner, Janbernd
   7. Muschol, Nicole

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
4. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

   1. Hennermann, Julia B
   2. Guffon, Nathalie
   3. Cattaneo, Federica
   4. Ceravolo, Ferdinando
   5. Borgwardt, Line
   6. Lund, Allan M
   7. Gil-Campos, Mercedes

   2020 - Forschungsinformationssystem des UKE
5. Diagnostik und Therapie des Morbus Pompe im Kindesalter, Diagnosis and Care of Infants and Children with Pompe Disease

   1. Hahn, Andreas
   2. Hennermann, Julia B
   3. Huemer, Martina
   4. Kampmann, Christoph
   5. Marquardt, Thorsten
   6. Mengel, Eugen
   7. Müller-Felber, Wolfgang

   2020 - Forschungsinformationssystem des UKE
6. Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

   1. Lenders, Malte
   2. Nordbeck, Peter
   3. Kurschat, Christine
   4. Karabul, Nesrin
   5. Kaufeld, Jessica
   6. Hennermann, Julia B
   7. Patten, Monica

   2020 - Forschungsinformationssystem des UKE
7. Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

   1. Muschol, Nicole M
   2. Pape, Daniel
   3. Kossow, Kai
   4. Ullrich, Kurt
   5. Arash-Kaps, Laila
   6. Hennermann, Julia B
   7. Stücker, Ralf

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
8. Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany

   1. Hahn, Andreas
   2. Praetorius, Susanne
   3. Karabul, Nesrin
   4. Dießel, Johanna
   5. Schmidt, Dorle
   6. Motz, Reinald
   7. Haase, Claudia

   2015 - Forschungsinformationssystem des UKE - frei zugänglich
9. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

   1. Kölker, Stefan
   2. Garbade, Sven F
   3. Boy, Nikolas
   4. Maier, Esther M
   5. Meissner, Thomas
   6. Mühlhausen, Chris
   7. Hennermann, Julia B

   2007 - Forschungsinformationssystem des UKE