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Anzahl der Publikationen: 15
Zeitschriftenartikel
Dinkel, Lina 
ORCID: https://orcid.org/0000-0002-5380-3152; Hummel, Selina ORCID: https://orcid.org/0009-0001-2902-6082; Zenatti, Valerio ORCID: https://orcid.org/0009-0007-2127-6267; Malara, Mariagiovanna ORCID: https://orcid.org/0000-0001-6417-9685; Tillmann, Yannik; Colombo, Alessio; Monasor, Laura Sebastian ORCID: https://orcid.org/0000-0001-7864-7400; Suh, Jung H. ORCID: https://orcid.org/0000-0001-8119-326X; Logan, Todd ORCID: https://orcid.org/0000-0003-2081-782X; Roth, Stefan ORCID: https://orcid.org/0000-0001-6823-2981; Paeger, Lars ORCID: https://orcid.org/0000-0001-8716-3483; Hoffelner, Patricia ORCID: https://orcid.org/0009-0009-9728-8162; Bludau, Oliver ORCID: https://orcid.org/0009-0005-9426-0325; Schmidt, Andree ORCID: https://orcid.org/0000-0002-8254-0777; Müller, Stephan A. ORCID: https://orcid.org/0000-0003-3414-307X; Schifferer, Martina ORCID: https://orcid.org/0000-0002-0500-8218; Nuscher, Brigitte; Njavro, Jasenka Rudan; Prestel, Matthias; Bartos, Laura M. ORCID: https://orcid.org/0009-0007-6158-319X; Wind-Mark, Karin ORCID: https://orcid.org/0000-0002-5461-1873; Slemann, Luna; Hoermann, Leonie ORCID: https://orcid.org/0009-0006-9074-3474; Kunte, Sebastian T. ORCID: https://orcid.org/0009-0007-3543-5329; Gnörich, Johannes ORCID: https://orcid.org/0000-0003-1554-7765; Lindner, Simon ORCID: https://orcid.org/0009-0007-4379-4436; Simons, Mikael; Herms, Jochen; Paquet, Dominik ORCID: https://orcid.org/0000-0003-2065-1639; Lichtenthaler, Stefan F. ORCID: https://orcid.org/0000-0003-2211-2575; Bartenstein, Peter ORCID: https://orcid.org/0009-0005-0734-4994; Franzmeier, Nicolai ORCID: https://orcid.org/0000-0001-9736-2283; Liesz, Arthur ORCID: https://orcid.org/0000-0002-9069-2594; Grosche, Antje ORCID: https://orcid.org/0000-0003-0338-7530; Bremova-Ertl, Tatiana ORCID: https://orcid.org/0000-0002-7397-045X; Catarino, Claudia ORCID: https://orcid.org/0000-0002-6528-7570; Beblo, Skadi; Bergner, Caroline; Schneider, Susanne A.; Strupp, Michael ORCID: https://orcid.org/0000-0002-9544-2279; Di Paolo, Gilbert ORCID: https://orcid.org/0000-0003-1032-1265; Brendel, Matthias ORCID: https://orcid.org/0000-0002-9247-2843 und Tahirovic, Sabina ORCID: https://orcid.org/0000-0003-4403-9559
(2024):
Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.
In: Science Translational Medicine, Bd. 16, Nr. 776, eadl4616
ORCID: https://orcid.org/0000-0002-5380-3152; Hummel, Selina ORCID: https://orcid.org/0009-0001-2902-6082; Zenatti, Valerio ORCID: https://orcid.org/0009-0007-2127-6267; Malara, Mariagiovanna ORCID: https://orcid.org/0000-0001-6417-9685; Tillmann, Yannik; Colombo, Alessio; Monasor, Laura Sebastian ORCID: https://orcid.org/0000-0001-7864-7400; Suh, Jung H. ORCID: https://orcid.org/0000-0001-8119-326X; Logan, Todd ORCID: https://orcid.org/0000-0003-2081-782X; Roth, Stefan ORCID: https://orcid.org/0000-0001-6823-2981; Paeger, Lars ORCID: https://orcid.org/0000-0001-8716-3483; Hoffelner, Patricia ORCID: https://orcid.org/0009-0009-9728-8162; Bludau, Oliver ORCID: https://orcid.org/0009-0005-9426-0325; Schmidt, Andree ORCID: https://orcid.org/0000-0002-8254-0777; Müller, Stephan A. ORCID: https://orcid.org/0000-0003-3414-307X; Schifferer, Martina ORCID: https://orcid.org/0000-0002-0500-8218; Nuscher, Brigitte; Njavro, Jasenka Rudan; Prestel, Matthias; Bartos, Laura M. ORCID: https://orcid.org/0009-0007-6158-319X; Wind-Mark, Karin ORCID: https://orcid.org/0000-0002-5461-1873; Slemann, Luna; Hoermann, Leonie ORCID: https://orcid.org/0009-0006-9074-3474; Kunte, Sebastian T. ORCID: https://orcid.org/0009-0007-3543-5329; Gnörich, Johannes ORCID: https://orcid.org/0000-0003-1554-7765; Lindner, Simon ORCID: https://orcid.org/0009-0007-4379-4436; Simons, Mikael; Herms, Jochen; Paquet, Dominik ORCID: https://orcid.org/0000-0003-2065-1639; Lichtenthaler, Stefan F. ORCID: https://orcid.org/0000-0003-2211-2575; Bartenstein, Peter ORCID: https://orcid.org/0009-0005-0734-4994; Franzmeier, Nicolai ORCID: https://orcid.org/0000-0001-9736-2283; Liesz, Arthur ORCID: https://orcid.org/0000-0002-9069-2594; Grosche, Antje ORCID: https://orcid.org/0000-0003-0338-7530; Bremova-Ertl, Tatiana ORCID: https://orcid.org/0000-0002-7397-045X; Catarino, Claudia ORCID: https://orcid.org/0000-0002-6528-7570; Beblo, Skadi; Bergner, Caroline; Schneider, Susanne A.; Strupp, Michael ORCID: https://orcid.org/0000-0002-9544-2279; Di Paolo, Gilbert ORCID: https://orcid.org/0000-0003-1032-1265; Brendel, Matthias ORCID: https://orcid.org/0000-0002-9247-2843 und Tahirovic, Sabina ORCID: https://orcid.org/0000-0003-4403-9559
(2024):
Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.
In: Science Translational Medicine, Bd. 16, Nr. 776, eadl4616
Grohmann-Held, Karina; Burgard, Peter; Baerwald, Christoph G. O.; Beblo, Skadi; Vom Dahl, Stephan; Das, Anibh; Dokoupil, Katharina; Fleissner, Sandra; Freisinger, Peter; Heddrich-Ellerbrok, Margret; Jung, Alexandra; Korpel, Vanessa; Kraemer, Johannes; Lier, Dinah; Maier, Esther M.; Meyer, Uta; Muehlhausen, Chris; Newger, Martha; Och, Ulrike; Ploeckinger, Ursula; Rosenbaum-Fabian, Stefanie; Rutsch, Frank; Santer, Rene; Schick, Petra; Schwarz, Martin; Spiekerkoetter, Ute; Strittmatter, Ursula; Thiele, Alena G.; Ziagaki, Athanasia; Muetze, Ulrike; Gleich, Florian; Garbade, Sven F. und Koelker, Stefan
(2022):
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
In: Journal of Inherited Metabolic Disease, Bd. 45, Nr. 6: S. 1070-1081
Boy, Nikolas; Muehlhausen, Chris; Maier, Esther M.; Ballhausen, Diana; Baumgartner, Matthias R.; Beblo, Skadi; Burgard, Peter; Chapman, Kimberly A.; Dobbelaere, Dries; Heringer-Seifert, Jana; Fleissner, Sandra; Grohmann-Held, Karina; Hahn, Gabriele; Harting, Inga; Hoffmann, Georg F.; Jochum, Frank; Karall, Daniela; Konstantopoulous, Vassiliki; Krawinkel, Michael B.; Lindner, Martin; Maertner, E. M. Charlotte; Nuoffer, Jean-Marc; Okun, Jürgen G.; Plecko, Barbara; Posset, Roland; Sahm, Katja; Scholl-Buergi, Sabine; Thimm, Eva; Walter, Magdalena; Williams, Monique; Vom Dahl, Stephan; Ziagaki, Athanasia; Zschocke, Johannes und Koelker, Stefan
(2022):
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 3: S. 482-519
Yepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Coster, Rudy van; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2022):
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
In: Genome Medicine, Bd. 14, Nr. 1, 38
[PDF, 2MB]
Barhold, Friederike; Meyer, Uta; Neugebauer, Anne-Kathrin; Thimm, Eva Maria; Lier, Dinah; Rosenbaum-Fabian, Stefanie; Och, Ulrike; Fekete, Anna; Moslinger, Dorothea; Rohde, Carmen; Beblo, Skadi; Hochuli, Michel; Bogovic, Nina; Korpel, Vanessa; vom Dahl, Stephan; Mayorandan, Sebene; Fischer, Aleksandra; Freisinger, Peter; Dokoupil, Katharina; Heddrich-Ellerbrok, Margret; Jorg-Streller, Monika; Teeffelen-Heithoff, Agnes van; Lahl, Janina und Das, Anibh Martin
(2021):
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.
In: Nutrients, Bd. 13, Nr. 1, 134
Maertner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Kraemer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Naeke, Andrea; Hoffmann, Georg F.; Muehlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Koelker, Stefan und Boy, Nikolas
(2021):
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
In: Scientific Reports, Bd. 11, Nr. 1, 19300
Muetze, Ulrike; Henze, Lucy; Gleich, Florian; Lindner, Martin; Gruenert, Sarah C.; Spiekerkoetter, Ute; Santer, Rene; Blessing, Holger; Thimm, Eva; Ensenauer, Regina; Weigel, Johannes; Beblo, Skadi; Arelin, Maria; Hennermann, Julia B.; Marquardt, Thorsten; Marquardt, Iris; Freisinger, Peter; Kraemer, Johannes; Dieckmann, Andrea; Weinhold, Natalie; Keller, Mareike; Walter, Magdalena; Schiergens, Katharina A.; Maier, Esther M.; Hoffmann, Georg F.; Garbade, Sven F. und Koelker, Stefan
(2021):
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 4: S. 857-870
Maertner, E. M. Charlotte; Maier, Esther M.; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Santer, Rene; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer-Seifert, Jana; Lenz, Dominic; Hoffmann, Georg F.; Muehlhausen, Chris; Ensenauer, Regina; Garbade, Sven F.; Koelker, Stefan und Boy, Nikolas
(2020):
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 3: S. 629-638
Boy, Nikolas; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer, Jana; Hoffmann, Georg F.; Muehlhausen, Chris; Maier, Esther M.; Ensenauer, Regina; Garbade, Sven F. und Koelker, Stefan
(2018):
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
In: Annals of Neurology, Bd. 83, Nr. 5: S. 970-979
Gruenert, Sarah C.; Muellerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, Rene; Bodamer, Olaf A.; Baumgartner, Matthias R.; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B.; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Buergi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P.; Superti-Furga, Andrea; Schwab, Karl Otfried und Sass, Joern Oliver
(2013):
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
In: Orphanet Journal of Rare Diseases
8:6
[PDF, 840kB]
Mütze, Ulrike; Beblo, Skadi; Kortz, Linda; Matthies, Claudia; Koletzko, Berthold; Bruegel, Mathias; Rohde, Carmen; Thiery, Joachim; Kiess, Wieland und Ceglarek, Uta
(2012):
Metabolomics of dietary fatty acid restriction in patients with phenylketonuria.
In: PLOS ONE 7(8), e43021 [PDF, 359kB]
In: PLOS ONE 7(8), e43021 [PDF, 359kB]
Koletzko, Berthold; Beblo, Skadi; Demmelmair, Hans und Hanebutt, Fabienne L.
(2009):
Omega-3 LC-PUFA supply and neurological outcomes in children with phenylketonuria (PKU).
In: Journal of pediatric gastroenterology and nutrition, Bd. 48 Suppl 1:
S2-7
Koletzko, Berthold; Beblo, Skadi; Demmelmair, Hans; Müller-Felber, Wolfgang und Hanebutt, Fabienne L.
(2009):
Does dietary DHA improve neural function in children? Observations in phenylketonuria.
In: Prostaglandins, leukotrienes, and essential fatty acids, Bd. 81, Nr. 2-3: S. 159-164
Beblo, Skadi; Reinhardt, Hannes; Demmelmair, Hans; Muntau, Ania C. und Koletzko, Berthold
(2007):
Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria.
In: Journal of pediatrics, Bd. 150, Nr. 5: S. 479-484
Beblo, Skadi; Reinhardt, Hannes; Muntau, Ania C.; Müller-Felber, Wolfgang; Roscher, Adelbert A. und Koletzko, Berthold
(2001):
Fish oil supplementation improves visual evoked potentials in children with phenylketonuria.
In: Neurology, Bd. 57, Nr. 8: S. 1488-1491