Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Boy, Nikolas, Mengler, Katharina, Thimm, Eva, Schiergens, Katharina A., Marquardt, Thorsten, Weinhold, Natalie, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Vossbeck, Judith, Steinfeld, Robert, Baumgartner, Matthias R., Beblo, Skadi, Dieckmann, Andrea, Näke, Andrea, Lindner, Martin, Heringer, Jana, Hoffmann, Georg F., Mühlhausen, Chris, Maier, Esther M., Ensenauer, Regina, Garbade, Sven F., Kölker, Stefan
Published in Annals of neurology (01.05.2018)
Published in Annals of neurology (01.05.2018)
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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Märtner, E M Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A, Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M, Freisinger, Peter, Grünert, Sarah C, Krämer, Johannes, Baumgartner, Matthias R, Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F, Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F, Maier, Esther M, Kölker, Stefan, Boy, Nikolas
Published in Scientific reports (29.09.2021)
Published in Scientific reports (29.09.2021)
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Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas
Published in Scientific reports (12.10.2021)
Published in Scientific reports (12.10.2021)
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The Clinical and Molecular Spectrum of GM1 Gangliosidosis
Arash-Kaps, Laila, Komlosi, Katalin, Seegräber, Marlene, Diederich, Stefan, Paschke, Eduard, Amraoui, Yasmina, Beblo, Skadi, Dieckmann, Andrea, Smitka, Martin, Hennermann, Julia B.
Published in The Journal of pediatrics (01.12.2019)
Published in The Journal of pediatrics (01.12.2019)
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Strain Ultrasound Elastography of Muscles in Healthy Children and Healthy Adults
Wenz, Helena, Dieckmann, Andrea, Lehmann, Thomas, Brandl, Ulrich, Mentzel, Hans-Joachim
Published in RöFo : Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebende Verfahren (01.12.2019)
Published in RöFo : Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebende Verfahren (01.12.2019)
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Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Mütze, Ulrike, Henze, Lucy, Gleich, Florian, Lindner, Martin, Grünert, Sarah C., Spiekerkoetter, Ute, Santer, René, Blessing, Holger, Thimm, Eva, Ensenauer, Regina, Weigel, Johannes, Beblo, Skadi, Arélin, Maria, Hennermann, Julia B., Marquardt, Thorsten, Marquardt, Iris, Freisinger, Peter, Krämer, Johannes, Dieckmann, Andrea, Weinhold, Natalie, Keller, Mareike, Walter, Magdalena, Schiergens, Katharina A., Maier, Esther M., Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
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Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Mütze, Ulrike, Henze, Lucy, Schröter, Julian, Gleich, Florian, Lindner, Martin, Grünert, Sarah C, Spiekerkoetter, Ute, Santer, René, Thimm, Eva, Ensenauer, Regina, Weigel, Johannes, Beblo, Skadi, Arélin, Maria, Hennermann, Julia B, Marquardt, Iris, Freisinger, Peter, Krämer, Johannes, Dieckmann, Andrea, Weinhold, Natalie, Schiergens, Katharina A, Maier, Esther M, Hoffmann, Georg F, Garbade, Sven F, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.11.2023)
Published in Journal of inherited metabolic disease (01.11.2023)
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EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome
Griffiths, Sara, Loveday, Chey, Zachariou, Anna, Behan, Lucy‐Ann, Chandler, Kate, Cole, Trevor, D'Arrigo, Stefano, Dieckmann, Andrea, Foster, Alison, Gibney, James, Hunter, Matthew, Milani, Donatella, Pantaleoni, Chiara, Roche, Edna, Sherlock, Mark, Springer, Amanda, White, Susan M., Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part A (01.04.2019)
Published in American journal of medical genetics. Part A (01.04.2019)
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Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
Märtner, E. M. Charlotte, Maier, Esther M., Mengler, Katharina, Thimm, Eva, Schiergens, Katharina A., Marquardt, Thorsten, Santer, René, Weinhold, Natalie, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Vossbeck, Judith, Steinfeld, Robert, Baumgartner, Matthias R., Beblo, Skadi, Dieckmann, Andrea, Näke, Andrea, Lindner, Martin, Heringer‐Seifert, Jana, Lenz, Dominic, Hoffmann, Georg F., Mühlhausen, Chris, Ensenauer, Regina, Garbade, Sven F., Kölker, Stefan, Boy, Nikolas
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Clinical variability of GM1 gangliosidosis
Hennermann, Julia B., Seegräber, Marlene, Amraoui, Yasmina, Gökce, Seyfullah, Reinke, Jörg, Dieckmann, Andrea, Smitka, Martin, Beblo, Skadi, Mengel, Eugen, Paschke, Eduard, Arash-Kaps, Laila
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Brain morphometry in Pontocerebellar Hypoplasia type 2
Ekert, Kaspar, Groeschel, Samuel, Sánchez-Albisua, Iciar, Frölich, Saskia, Dieckmann, Andrea, Engel, Corinna, Krägeloh-Mann, Ingeborg
Published in Orphanet journal of rare diseases (19.07.2016)
Published in Orphanet journal of rare diseases (19.07.2016)
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Defining and expanding the phenotype of QARS -associated developmental epileptic encephalopathy
Johannesen, Katrine M, Mitter, Diana, Janowski, Robert, Roth, Christian, Toulouse, Joseph, Poulat, Anne-Lise, Ville, Dorothee M, Chatron, Nicolas, Brilstra, Eva, Geleijns, Karin, Born, Alfred Peter, McLean, Scott, Nugent, Kimberly, Baynam, Gareth, Poulton, Cathryn, Dreyer, Lauren, Gration, Dylan, Schulz, Solveig, Dieckmann, Andrea, Helbig, Katherine L, Merkenschlager, Andreas, Jamra, Rami, Finck, Anja, Gardella, Elena, Hjalgrim, Helle, Mirzaa, Ghayda, Brancati, Francesco, Bierhals, Tatjana, Denecke, Jonas, Hempel, Maja, Lemke, Johannes R, Rubboli, Guido, Muschke, Petra, Guerrini, Renzo, Vetro, Annalisa, Niessing, Dierk, Lesca, Gaetan, Møller, Rikke S
Published in Neurology. Genetics (01.12.2019)
Published in Neurology. Genetics (01.12.2019)
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