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)
Get full text
Journal Article
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
Mengel, Eugen, Muschol, Nicole, Weinhold, Natalie, Ziagaki, Athanasia, Neugebauer, Julia, Antoni, Benno, Langer, Laura, Gasparic, Maja, Guillonneau, Sophie, Fournier, Marie, Laredo, Fernando, Pulikottil-Jacob, Ruth
Published in Orphanet journal of rare diseases (13.04.2024)
Published in Orphanet journal of rare diseases (13.04.2024)
Get full text
Journal Article
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
Mütze, Ulrike, Ottenberger, Alina, Gleich, Florian, Maier, Esther M., Lindner, Martin, Husain, Ralf A., Palm, Katja, Beblo, Skadi, Freisinger, Peter, Santer, René, Thimm, Eva, vom Dahl, Stephan, Weinhold, Natalie, Grohmann‐Held, Karina, Haase, Claudia, Hennermann, Julia B., Hörbe‐Blindt, Alexandra, Kamrath, Clemens, Marquardt, Iris, Marquardt, Thorsten, Behne, Robert, Haas, Dorothea, Spiekerkoetter, Ute, Hoffmann, Georg F., Garbade, Sven F., Grünert, Sarah C., Kölker, Stefan
Published in Annals of clinical and translational neurology (01.04.2024)
Published in Annals of clinical and translational neurology (01.04.2024)
Get full text
Journal Article
Two years of pegvaliase in Germany: Experiences and best practice recommendations
Krämer, Johannes, Baerwald, Christoph, Heimbold, Christian, Kamrath, Clemens, Parhofer, Klaus G., Reichert, Anja, Rutsch, Frank, Stolz, Simone, Weinhold, Natalie, Muntau, Ania C.
Published in Molecular genetics and metabolism (01.05.2023)
Published in Molecular genetics and metabolism (01.05.2023)
Get full text
Journal Article
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Grünert, Sarah C., Derks, Terry G.J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Maria Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
Get full text
Journal Article
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
Tangeraas, Trine, Constante, Juliana R, Backe, Paul Hoff, Oyarzábal, Alfonso, Neugebauer, Julia, Weinhold, Natalie, Boemer, Francois, Debray, François G, Ozturk-Hism, Burcu, Evren, Gumus, Tuba, Eminoglu F, Ummuhan, Oncul, Footitt, Emma, Davison, James, Martinez, Caroline, Bueno, Clarissa, Machado, Irene, Rodríguez-Pombo, Pilar, Al-Sannaa, Nouriya, De Los Santos, Mariela, López, Jordi Muchart, Ozturkmen-Akay, Hatice, Karaca, Meryem, Tekin, Mustafa, Pajares, Sonia, Ormazabal, Aida, Stoway, Stephanie D, Artuch, Rafael, Dixon, Marjorie, Mørkrid, Lars, García-Cazorla, Angeles
Published in Brain (London, England : 1878) (03.07.2023)
Published in Brain (London, England : 1878) (03.07.2023)
Get full text
Journal Article
Web Resource
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci, Sara, Wagner, Christine, Grünert, Sarah C., Matysiak, Uta, Weinhold, Natalie, Klein, Jeannette, Porta, Francesco, Spada, Marco, Bordugo, Andrea, Rodella, Giulia, Furlan, Francesca, Sajeva, Anna, Menni, Francesca, Spiekerkoetter, Ute
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
Get full text
Journal Article
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene
Schottmann, Gudrun, Sarpong, Akosua, Lorenz, Carmen, Weinhold, Natalie, Gill, Esther, Teschner, Lisa, Ferdinandusse, Sacha, Wanders, Ronald J. A., Prigione, Alessandro, Schuelke, Markus
Published in Movement disorders (01.11.2016)
Published in Movement disorders (01.11.2016)
Get full text
Journal Article
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease
Grünert, Sarah C., Foster, William, Schumann, Anke, Lund, Allan, Pontes, Christina, Roloff, Sylvia, Weinhold, Natalie, Yue, Wyatt W., AlAsmari, Ali, Obaid, Osama A., Faqeih, Eissa Ali, Stübbe, Lisa, Yamamoto, Raina, Gemperle-Britschgi, Corinne, Walter, Melanie, Spiekerkoetter, Ute, Mackinnon, Sabrina, Sass, Jörn Oliver
Published in Biochimie (01.04.2021)
Published in Biochimie (01.04.2021)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
The European reference network for metabolic diseases
Parenti, Giancarlo, Fecarotta, Simona, Alagia, Marianna, Attaianese, Federica, Verde, Alessandra, Tarallo, Antonietta, Gragnaniello, Vincenza, Ziagaki, Athanasia, Guimaraes, Maria Jose, Aguiar, Patricio, Hahn, Andreas, Azevedo, Olga, Donati, Maria Alice, Kiec-Wilk, Beata, Scarpa, Maurizio, van der Beek, Nadine A. M. E, Del Toro Riera, Mireja, Germain, Dominique P, Huidekoper, Hidde, van den Hout, Johanna M. P, van der Ploeg, Ans T, Baric, Ivo, Batzios, Spyros, Belmatoug, Nadia, Bordugo, Andrea, Bosch, Annet M, Brassier, Anais, Burlina, Alberto, Cassiman, David, Chabrol, Brigitte, Chronopoulou, Efstathia, Couce-Pico, Maria Luz, Darin, Niklas, Das, Anibh M, Debray, Francois G, Deegan, Patrick, de Abreu Freire Diogo Matos, Luisa M, De Las Heras Montero, Javier, Di Rocco, Maja, Dobbelaere, Dries, Eyskens, Francois, Ferreira, Ana, Gaspar, Ana M, Gasperini, Serena, López, Antonio González-Meneses, Grosso, Salvatore, Guffon-Fouilhoux, Nathalie, Hennermann, Julia, Hiwot, Tarekegn G, Jones, Simon, Kingma, Sandra, Komninaka, Veroniki, Martín-Hernández, Elena, Martins, Esmeralda, Miclea, Diana, Pfliegler, György, Rodrigues, Esmeralda, Rokicki, Dariusz, Roland, Dominique, Rutsch, Frank, Salviati, Alessandro, Tournev, Ivailo, Ullrich, Kurt, van Hasselt, Peter M, Vijay, Suresh, Weinhold, Natalie, Witters, Peter, Zeman, Jiri
Published in Orphanet journal of rare diseases (01.11.2024)
Published in Orphanet journal of rare diseases (01.11.2024)
Get full text
Journal Article
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
Parenti, Giancarlo, Fecarotta, Simona, Alagia, Marianna, Attaianese, Federica, Verde, Alessandra, Tarallo, Antonietta, Gragnaniello, Vincenza, Ziagaki, Athanasia, Guimaraes, Maria Jose', Aguiar, Patricio, Hahn, Andreas, Azevedo, Olga, Donati, Maria Alice, Kiec-Wilk, Beata, Scarpa, Maurizio, van der Beek, Nadine A M E, Del Toro Riera, Mireja, Germain, Dominique P, Huidekoper, Hidde, van den Hout, Johanna M P, van der Ploeg, Ans T
Published in Orphanet journal of rare diseases (01.11.2024)
Published in Orphanet journal of rare diseases (01.11.2024)
Get full text
Journal Article
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)
Get full text
Journal Article
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Pop, Ana, Williams, Monique, Struys, Eduard A., Monné, Magnus, Jansen, Erwin E. W., De Grassi, Anna, Kanhai, Warsha A., Scarcia, Pasquale, Ojeda, Matilde R. Fernandez, Porcelli, Vito, van Dooren, Silvy J. M., Lennertz, Pascal, Nota, Benjamin, Abdenur, Jose E., Coman, David, Das, Anibh Martin, El-Gharbawy, Areeg, Nuoffer, Jean-Marc, Polic, Branka, Santer, René, Weinhold, Natalie, Zuccarelli, Britton, Palmieri, Ferdinando, Palmieri, Luigi, Salomons, Gajja S.
Published in Journal of inherited metabolic disease (01.03.2018)
Published in Journal of inherited metabolic disease (01.03.2018)
Get full text
Journal Article
Malignant liver tumors treated with MR imaging-guided laser-induced thermotherapy: technique and prospective results
Vogl, T J, Müller, P K, Hammerstingl, R, Weinhold, N, Mack, M G, Philipp, C, Deimling, M, Beuthan, J, Pegios, W, Riess, H
Published in Radiology (01.07.1995)
Published in Radiology (01.07.1995)
Get more information
Journal Article