Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

by Whybra, Catharina, Mengel, Eugen, Russo, Alexandra, Bahlmann, Franz, Kampmann, Christoph, Beck, Michael, Eich, Elke, Mildenberger, Eva
Published 2012

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort...

by Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè
Published 2015

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

by Stampfer, Miriam, Theiss, Susanne, Amraoui, Yasmina, Jiang, Xuntian, Keller, Sigrid, Ory, Daniel S, Mengel, Eugen, Fischer, Christine, Runz, Heiko
Published 2013

Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

by Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Published 2013

Disease and patient characteristics in NP-C patients: findings from an international disease registry

by Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Published 2013

Niemann-Pick disease type C symptomatology: an expert-based clinical description

by Mengel, Eugen, Klünemann, Hans-Hermann, Lourenço, Charles M, Hendriksz, Christian J, Sedel, Frédéric, Walterfang, Mark, Kolb, Stefan A
Published 2013

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)

by Kampmann, Christoph, Abu-Tair, Tariq, Gökce, Seyfullah, Lampe, Christina, Reinke, Jörg, Mengel, Eugen, Hennermann, Julia B., Wiethoff, Christiane M.
Published 2016

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

by Lindner, Martin, Gramer, Gwendolyn, Haege, Gisela, Fang-Hoffmann, Junmin, Schwab, Karl O, Tacke, Uta, Trefz, Friedrich K, Mengel, Eugen, Wendel, Udo, Leichsenring, Michael, Burgard, Peter, Hoffmann, Georg F
Published 2011

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

by Herzog, Andreas, Hartung, Ralf, Reuser, Arnold J J, Hermanns, Pia, Runz, Heiko, Karabul, Nesrin, Gökce, Seyfullah, Pohlenz, Joachim, Kampmann, Christoph, Lampe, Christina, Beck, Michael, Mengel, Eugen
Published 2012

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

by Welford, Richard W. D., Garzotti, Marco, Marques Lourenço, Charles, Mengel, Eugen, Marquardt, Thorsten, Reunert, Janine, Amraoui, Yasmina, Kolb, Stefan A., Morand, Olivier, Groenen, Peter
Published 2014

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

by Yildiz, Yildiz, Hoffmann, Per, vom Dahl, Stefan, Breiden, Bernadette, Sandhoff, Roger, Niederau, Claus, Horwitz, Mia, Karlsson, Stefan, Filocamo, Mirella, Elstein, Deborah, Beck, Michael, Sandhoff, Konrad, Mengel, Eugen, Gonzalez, Maria C, Nöthen, Markus M, Sidransky, Ellen, Zimran, Ari, Mattheisen, Manuel
Published 2013

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

by Hendriksz, Christian J., Burton, Barbara, Fleming, Thomas R., Harmatz, Paul, Hughes, Derralynn, Jones, Simon A., Lin, Shuan-Pei, Mengel, Eugen, Scarpa, Maurizio, Valayannopoulos, Vassili, Giugliani, Roberto, Slasor, Peter, Lounsbury, Debra, Dummer, Wolfgang
Published 2014

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

by Pineda, Mercedes, Mengel, Eugen, Jahnová, Helena, Héron, Bénédicte, Imrie, Jackie, Lourenço, Charles M., van der Linden, Vanessa, Karimzadeh, Parvaneh, Valayannopoulos, Vassili, Jesina, Pavel, Torres, Juan V., Kolb, Stefan A.
Published 2016

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

by de Ru, Minke H, Boelens, Jaap J, Das, Anibh M, Jones, Simon A, van der Lee, Johanna H, Mahlaoui, Nizar, Mengel, Eugen, Offringa, Martin, O'Meara, Anne, Parini, Rossella, Rovelli, Attilio, Sykora, Karl-Walter, Valayannopoulos, Vassili, Vellodi, Ashok, Wynn, Robert F, Wijburg, Frits A
Published 2011