95 Einträge gefunden

1. CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

   1. Ammer, Luise Sophie
   2. Täuber, Karolin
   3. Perez, Anna
   4. Dohrmann, Thorsten
   5. Denecke, Jonas
   6. Santer, René
   7. Blümlein, Ulrike

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
2. Neonatal screening for isovaleric aciduria:Reducing the increasingly high false-positive rate in Germany

   1. Murko, Simona
   2. Aseman, Asra Dadkhah
   3. Reinhardt, Friederike
   4. Gramer, Gwendolyn
   5. Okun, Jürgen Günther
   6. Mütze, Ulrike
   7. Santer, René

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
3. Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

   1. Reuter, Miriam S
   2. Zech, Michael
   3. Hempel, Maja
   4. Altmüller, Janine
   5. Heung, Tracy
   6. Pölsler, Laura
   7. Santer, René

   2022 - Forschungsinformationssystem des UKE
4. Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series

   1. Heidepriem, Jasmin
   2. Dahlke, Christine
   3. Kobbe, Robin
   4. Santer, René
   5. Koch, Till
   6. Fathi, Anahita
   7. Seco, Bruna M.S.

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
5. SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany

   1. Pfefferle, Susanne
   2. Günther, Thomas
   3. Kobbe, Robin
   4. Czech-Sioli, Manja
   5. Nörz, Dominic
   6. Santer, René
   7. Oh, Jun

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
6. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

   1. Mütze, Ulrike
   2. Henze, Lucy
   3. Gleich, Florian
   4. Lindner, Martin
   5. Grünert, Sarah C
   6. Spiekerkoetter, Ute
   7. Santer, René

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
7. The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

   1. Grünert, Sarah C
   2. Eckenweiler, Matthias
   3. Haas, Dorothea
   4. Lindner, Martin
   5. Tsiakas, Konstantinos
   6. Santer, René
   7. Tucci, Sara

   2021 - Forschungsinformationssystem des UKE
8. Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study

   1. Märtner, E M Charlotte
   2. Maier, Esther M
   3. Mengler, Katharina
   4. Thimm, Eva
   5. Schiergens, Katharina A
   6. Marquardt, Thorsten
   7. Santer, René

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
9. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

   1. Schneeberger, Pauline E
   2. Kortüm, Fanny
   3. Korenke, Georg Christoph
   4. Alawi, Malik
   5. Santer, René
   6. Woidy, Mathias
   7. Buhas, Daniela

   2020 - Forschungsinformationssystem des UKE
10. Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

    1. Pennisi, Alessandra
    2. Maranda, Bruno
    3. Benoist, Jean-François
    4. Baudouin, Véronique
    5. Rigal, Odile
    6. Pichard, Samia
    7. Santer, René

    2020 - Forschungsinformationssystem des UKE
11. Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

    1. Marten, Lara M
    2. Brinkert, Florian
    3. Smith, Desirée E C
    4. Prokisch, Holger
    5. Hempel, Maja
    6. Santer, René

    2020 - Forschungsinformationssystem des UKE
12. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

    1. Andersen, Peter M
    2. Nordström, Ulrika
    3. Tsiakas, Konstantinos
    4. Johannsen, Jessika
    5. Volk, Alexander E
    6. Bierhals, Tatjana
    7. Zetterström, Per

    2019 - Forschungsinformationssystem des UKE
13. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

    1. Lukacs, Zoltan
    2. Nickel, Miriam
    3. Murko, Simona
    4. Nieves Cobos, Paulina
    5. Schulz, Angela
    6. Santer, René
    7. Kohlschütter, Alfried

    2019 - Forschungsinformationssystem des UKE
14. Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a

    1. Holsten, Till
    2. Tsiakas, Konstantinos
    3. Kordes, Uwe
    4. Bison, Brigitte
    5. Pietsch, Torsten
    6. Rutkowski, Stefan
    7. Santer, René

    2018 - Forschungsinformationssystem des UKE
15. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

    1. Johannsen, Jessika
    2. Kortüm, Fanny
    3. Rosenberger, Georg
    4. Bokelmann, Kristin
    5. Schirmer, Markus A
    6. Denecke, Jonas
    7. Santer, René

    2018 - Forschungsinformationssystem des UKE
16. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    1. Harms, Frederike L
    2. Kloth, Katja
    3. Bley, Annette
    4. Denecke, Jonas
    5. Santer, René
    6. Lessel, Davor
    7. Hempel, Maja

    2018 - Forschungsinformationssystem des UKE
17. Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells

    1. Böhringer, Judith
    2. Santer, René
    3. Schumacher, Neele
    4. Gieseke, Friederike
    5. Cornils, Kerstin
    6. Pechan, Maria
    7. Kustermann-Kuhn, Birgit

    2017 - Forschungsinformationssystem des UKE
18. LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study

    1. Hempel, Maja
    2. Kremer, Laura S
    3. Tsiakas, Konstantinos
    4. Alhaddad, Bader
    5. Haack, Tobias B
    6. Löbel, Ulrike
    7. Feichtinger, René G

    2017 - Forschungsinformationssystem des UKE
19. The first case of domino-split-liver transplantation in maple syrup urine disease

    1. Herden, Uta
    2. Li, Jun
    3. Fischer, Lutz
    4. Brinkert, Florian
    5. Blohm, Martin
    6. Santer, René
    7. Nashan, Bjoern

    2017 - Forschungsinformationssystem des UKE
20. MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2

    1. Coady, Michael J
    2. El Tarazi, Abdulah
    3. Santer, René
    4. Bissonnette, Pierre
    5. Sasseville, Louis J
    6. Calado, Joaquim
    7. Lussier, Yoann

    2017 - Forschungsinformationssystem des UKE