Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher dis... von Rolfs, Arndt, Giese, Anne-Katrin, Grittner, Ulrike, Mascher, Daniel, Elstein, Deborah, Zimran, Ari, Böttcher, Tobias, Lukas, Jan, Hübner, Rayk, Gölnitz, Uta, Röhle, Anja, Dudesek, Ales, Meyer, Wolfgang, Wittstock, Matthias, Mascher, Hermann

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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease von Pettazzoni, Magali, Froissart, Roseline, Pagan, Cécile, Vanier, Marie T, Ruet, Séverine, Latour, Philippe, Guffon, Nathalie, Fouilhoux, Alain, Germain, Dominique P, Levade, Thierry, Vianey-Saban, Christine, Piraud, Monique, Cheillan, David

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Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model von Polinski, Nicole K., Martinez, Terina N., Gorodinsky, Alexander, Gareus, Ralph, Sasner, Michael, Herberth, Mark, Switzer, Robert, Ahmad, Syed O., Cosden, Mali, Kandebo, Monika, Drolet, Robert E., Buckett, Peter D., Shan, Weisong, Chen, Yi, Pellegrino, Lee J., Ellsworth, Gregory D., Dungan, Leo B., Hirst, Warren D., Clark, Sean W., Dave, Kuldip D.

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Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology von Cawley, Niamh X., Sojka, Caitlin, Cougnoux, Antony, Lyons, Anna T., Nicoli, Elena-Raluca, Wassif, Christopher A., Porter, Forbes D.

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Structure-function relationships of cholesterol mobilization from the endo-lysosome compartment of NPC1-deficient human cells by β-CD polyrotaxanes von Samaddar, Shayak, Bose, Debosreeta, Loren, Bradley P, Skulsky, Joseph L, Ilnytska, Olga, Struzik, Zachary J, Storch, Judith, Thompson, David H

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Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice von Marques, André R A, Aten, Jan, Ottenhoff, Roelof, van Roomen, Cindy P A A, Herrera Moro, Daniela, Claessen, Nike, Vinueza Veloz, María Fernanda, Zhou, Kuikui, Lin, Zhanmin, Mirzaian, Mina, Boot, Rolf G, De Zeeuw, Chris I, Overkleeft, Herman S, Yildiz, Yildiz, Aerts, Johannes M F G

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Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy... von Banugaria, Suhrad G, Prater, Sean N, Patel, Trusha T, Dearmey, Stephanie M, Milleson, Christie, Sheets, Kathryn B, Bali, Deeksha S, Rehder, Catherine W, Raiman, Julian A J, Wang, Raymond A, Labarthe, Francois, Charrow, Joel, Harmatz, Paul, Chakraborty, Pranesh, Rosenberg, Amy S, Kishnani, Priya S

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Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases von Belflore, Maria Paola, Iacobellis, Francesca, Acampora, Emma, Caiazza, Martina, Rubino, Marta, Monda, Emanuele, Magaldi, Maria Rosaria, Tarallo, Antonietta, Sasso, Marcella, De Pasquale, Valeria, Grassi, Roberto, Cappabianca, Salvatore, Calabro, Paolo, Fecarotta, Simona, Esposito, Salvatore, Esposito, Giovanni, Pisani, Antonio, Pavone, Luigi Michele, Parenti, Giancarlo, Limongelli, Giuseppe

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Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease von Marques, André R A, Gabriel, Tanit L, Aten, Jan, van Roomen, Cindy P A A, Ottenhoff, Roelof, Claessen, Nike, Alfonso, Pilar, Irún, Pilar, Giraldo, Pilar, Aerts, Johannes M F G, van Eijk, Marco

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BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pat... von Yogalingam, Gouri, Luu, Amanda R, Prill, Heather, Lo, Melanie J, Yip, Bryan, Holtzinger, John, Christianson, Terri, Aoyagi-Scharber, Mika, Lawrence, Roger, Crawford, Brett E, LeBowitz, Jonathan H

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Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis von Dornelles, Alícia Dorneles, Artigalás, Osvaldo, da Silva, André Anjos, Ardila, Dora Lucia Vallejo, Alegra, Taciane, Pereira, Tiago Veiga, Vairo, Filippo Pinto E, Schwartz, Ida Vanessa Doederlein

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Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1 von Dardis, A, Michelakakis, H, Rozenfeld, P, Fumic, K, Wagner, J, Pavan, E, Fuller, M, Revel-Vilk, S, Hughes, D, Cox, T, Aerts, J

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Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease von Limgala, Renuka Pudi, Ioanou, Chidima, Plassmeyer, Matthew, Ryherd, Mark, Kozhaya, Lina, Austin, Lauren, Abidoglu, Cem, Unutmaz, Derya, Alpan, Oral, Goker-Alpan, Ozlem

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Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy von Lollert, André, Stihl, Clemens, Hötker, Andreas M, Mengel, Eugen, König, Jochem, Laudemann, Katharina, Gökce, Seyfullah, Düber, Christoph, Staatz, Gundula

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Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy von Pal, Abhijit Ricky, Mercer, Jean, Jones, Simon A, Bruce, Iain A, Bigger, Brian W

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Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases von Gómez-Grau, Marta, Garrido, Elena, Cozar, Mónica, Rodriguez-Sureda, Víctor, Domínguez, Carmen, Arenas, Concepción, Gatti, Richard A, Cormand, Bru, Grinberg, Daniel, Vilageliu, Lluïsa

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Growing versus non-growing vestibular schwannomas: assessment of natural history von Dardis, A., Donghun, K., Kontorinis, G.

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies von Haugarvoll, Kristoffer, Johansson, Stefan, Rodriguez, Carlos E, Boman, Helge, Haukanes, Bjørn Ivar, Bruland, Ove, Roque, Francisco, Jonassen, Inge, Blomqvist, Maria, Telstad, Wenche, Månsson, Jan-Eric, Knappskog, Per Morten, Bindoff, Laurence A

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Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eye von Suzuki, Takahiro, Shimoda, Masami, Ito, Kumpei, Hanai, Shuji, Aizawa, Hidenobu, Kato, Tomoki, Kawasaki, Kazunori, Yamaguchi, Terumi, Ryoo, Hyung Don, Goto-Inoue, Naoko, Setou, Mitsutoshi, Tsuji, Shoji, Ishida, Norio

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Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage von Bohte, Anneloes E, van Dussen, Laura, Akkerman, Erik M, Nederveen, Aart J, Sinkus, Ralph, Jansen, Peter L M, Stoker, Jaap, Hollak, Carla E M

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