5 Einträge gefunden

1. Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry

   1. Maeser, Stefan
   2. Petre, Brindusa-Alina
   3. Ion, Laura
   4. Rawer, Stephan
   5. Kohlschütter, Alfried
   6. Santorelli, Filippo M
   7. Simonati, Alessandro

   2020 - Forschungsinformationssystem des UKE - frei zugänglich
2. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

   1. Nickel, Miriam
   2. Simonati, Alessandro
   3. Jacoby, David
   4. Lezius, Susanne
   5. Kilian, Dirk
   6. Van de Graaf, Benjamin
   7. Pagovich, Odelya E

   2018 - Forschungsinformationssystem des UKE
3. Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

   1. Simonati, Alessandro
   2. Williams, Ruth E
   3. Nardocci, Nardo
   4. Laine, Minna
   5. Battini, Roberta
   6. Schulz, Angela
   7. Garavaglia, Barbara

   2017 - Forschungsinformationssystem des UKE
4. NCL-Krankheiten - Aus klinischer Sicht, NCL diseases - clinical perspectives

   1. Schulz, Angela
   2. Kohlschütter, Alfried
   3. Mink, Jonathan
   4. Simonati, Alessandro
   5. Williams, Ruth

   2013 - Forschungsinformationssystem des UKE
5. 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