Search Results - "Groener, Johanna E"

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome by Rombach, Saskia M, Aerts, Johannes M F G, Poorthuis, Ben J H M, Groener, Johanna E M, Donker-Koopman, Wilma, Hendriks, Erik, Mirzaian, Mina, Kuiper, Sijmen, Wijburg, Frits A, Hollak, Carla E M, Linthorst, Gabor E

“…Enzyme replacement therapy (ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti…”
Get full text

Elevated globotriaosylsphingosine is a hallmark of Fabry disease by Aerts, Johannes M, Groener, Johanna E, Kuiper, Sijmen, Donker-Koopman, Wilma E, Strijland, Anneke, Ottenhoff, Roelof, van Roomen, Cindy, Mirzaian, Mina, Wijburg, Frits A, Linthorst, Gabor E, Vedder, Anouk C, Rombach, Saskia M, Cox-Brinkman, Josanne, Somerharju, Pentti, Boot, Rolf G, Hollak, Carla E, Brady, Roscoe O, Poorthuis, Ben J

“…Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A that affects males and shows disease expression in…”
Get full text

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry by Gold, Henrik, Mirzaian, Mina, Dekker, Nick, Joao Ferraz, Maria, Lugtenburg, Johan, Codée, Jeroen D C, van der Marel, Gijs A, Overkleeft, Herman S, Linthorst, Gabor E, Groener, Johanna E M, Aerts, Johannes M, Poorthuis, Ben J H M

“…Biochemical markers that accurately reflect the severity and progression of disease in patients with Fabry disease and their response to treatment are urgently…”
Get full text

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response by Dekker, Nick, van Dussen, Laura, Hollak, Carla E.M., Overkleeft, Herman, Scheij, Saskia, Ghauharali, Karen, van Breemen, Mariëlle J., Ferraz, Maria J., Groener, Johanna E.M., Maas, Mario, Wijburg, Frits A., Speijer, Dave, Tylki-Szymanska, Anna, Mistry, Pramod K., Boot, Rolf G., Aerts, Johannes M.

“…Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, leads to prominent glucosylceramide accumulation in lysosomes of tissue…”
Get full text

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies by Aerts, Johannes M. F. G., Kallemeijn, Wouter W., Wegdam, Wouter, Joao Ferraz, Maria, van Breemen, Marielle J., Dekker, Nick, Kramer, Gertjan, Poorthuis, Ben J., Groener, Johanna E. M., Cox-Brinkman, Josanne, Rombach, Saskia M., Hollak, Carla E. M., Linthorst, Gabor E., Witte, Martin D., Gold, Henrik, van der Marel, Gijs A., Overkleeft, Herman S., Boot, Rolf G.

“…A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the…”
Get full text

Dual-Action Lipophilic Iminosugar Improves Glycemic Control in Obese Rodents by Reduction of Visceral Glycosphingolipids and Buffering of Carbohydrate Assimilation by Wennekes, Tom, Meijer, Alfred J, Groen, Albert K, Boot, Rolf G, Groener, Johanna E, van Eijk, Marco, Ottenhoff, Roelof, Bijl, Nora, Ghauharali, Karen, Song, Hang, O’Shea, Tom J, Liu, Hanlan, Yew, Nelson, Copeland, Diane, van den Berg, Richard J, van der Marel, Gijsbert A, Overkleeft, Herman S, Aerts, Johannes M

“…The lipophilic iminosugar N-[5-(adamantan-1-ylmethoxy)pentyl]-1-deoxynojirimycin (2, AMP-DNM) potently controls hyperglycemia in obese rodent models of insulin…”
Get full text

HPLC for Simultaneous Quantification of Total Ceramide, Glucosylceramide, and Ceramide Trihexoside Concentrations in Plasma by Groener, Johanna E.M, Poorthuis, Ben J.H.M, Kuiper, Sijmen, Helmond, Mariette T.J, Hollak, Carla E.M, Aerts, Johannes M.F.G

“…Simple, reproducible assays are needed for the quantification of sphingolipids, ceramide (Cer), and sphingoid bases. We developed an HPLC method for…”
Get full text

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients by Smid, Bouwien E, Rombach, Saskia M, Aerts, Johannes M F G, Kuiper, Symen, Mirzaian, Mina, Overkleeft, Hermen S, Poorthuis, Ben J H M, Hollak, Carla E M, Groener, Johanna E M, Linthorst, Gabor E

“…Enzyme replacement therapy is currently the only approved therapy for Fabry disease. From June 2009 on, viral contamination of Genzyme's production facility…”
Get full text

Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine by Rombach, Saskia M, van den Bogaard, Bas, de Groot, Eric, Groener, Johanna E.M, Poorthuis, Ben J, Linthorst, Gabor E, van den Born, Bert-Jan H, Hollak, Carla E.M, Aerts, Johannes M.F.G

“…Fabry disease is an X-linked hereditary lysosomal storage disorder attributed to a deficiency of α-galactosidase A leading to increased plasma levels of…”
Get full text

Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis by de Fost, Maaike, Hollak, Carla E.M., Groener, Johanna E.M., Aerts, Johannes M.F.G., Maas, Mario, Poll, Ludger W., Wiersma, Maaike G., Häussinger, Dieter, Brett, Sarah, Brill, Nicole, Dahl, Stephan vom

“…Dosing of enzyme replacement therapy (ERT) for Gaucher disease type 1 is still a subject of debate and varies from 15 to 130 U/kg/mo, making a huge economic…”
Get full text

Type I Gaucher Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance by Langeveld, Mirjam, Ghauharali, Karen J. M., Sauerwein, Hans P., Ackermans, Mariette T., Groener, Johanna E. M., Hollak, Carla E. M., Aerts, Johannes M., Serlie, Mireille J.

“…Context: Complex glycosphingolipids, in majority the ganglioside GM3, surround the insulin receptor in a special membrane compartment (raft) and modulate…”
Get full text

Substrate reduction therapy of glycosphingolipid storage disorders by Aerts, Johannes M. F. G., Hollak, Carla E. M., Boot, Rolf G., Groener, Johanna E. M., Maas, Mario

“…Summary In the last 15 years enormous progress has been made regarding therapy of type I Gaucher disease, a severely disabling disorder characterized by…”
Get full text

Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3 by Vedder, Anouk C., Breunig, Frank, Donker-Koopman, Wilma E., Mills, Kevin, Young, Elisabeth, Winchester, Bryan, Ten Berge, Ineke J.M., Groener, Johanna E.M., Aerts, Johannes M.F.G., Wanner, Christoph, Hollak, Carla E.M.

“…Two different enzyme preparations are used for the treatment of Fabry disease patients, agalsidase alfa (Replagal, Shire) and agalsidase beta (Fabrazyme,…”
Get full text

Kupffer cells promote hepatic steatosis via interleukin‐1β–dependent suppression of peroxisome proliferator‐activated receptor α activity by Stienstra, Rinke, Saudale, Fredy, Duval, Caroline, Keshtkar, Shohreh, Groener, Johanna E. M., van Rooijen, Nico, Staels, Bart, Kersten, Sander, Müller, Michael

“…Kupffer cells have been implicated in the pathogenesis of various liver diseases. However, their involvement in metabolic disorders of the liver, including…”
Get full text

Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form — No positive effects after 2-years of miglustat therapy by Tylki-Szymańska, Anna, Groener, Johanna E.M., Kamiński, Marek Leszek, Ługowska, Agnieszka, Jurkiewicz, Elżbieta, Czartoryska, Barbara

“…Gaucher disease occurs mainly as a result of a deficiency of the lysosomal enzyme beta-glucocerebrosidase activity. A rare variant form of Gaucher disease is…”
Get full text

Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients by Bank, Ruud A., Groener, Johanna E.M., van Gemund, Justus J., Maaswinkel, Petra D., Hoeben, Kees A., Schut, Herman A., Everts, Vincent

“…To investigate extracellular matrix (ECM) characteristics of cortical bone and articular cartilage of patients with Morquio syndrome A, a lysosomal storage…”
Get full text

Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial by de Fost, Maaike, Aerts, Johannes M.F.G, Groener, Johanna E.M, Maas, Mario, Akkerman, Erik M, Wiersma, Maaike G, Hollak, Carla E.M

“…From the Department of Endocrinology and Metabolism (MdF, MGW, CEMH); Medical Biochemistry (JMFGA, JEMG); Radiology (MM, EMA), Academic Medical Centre,…”
Get full text

Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes by van Dussen, Laura, Cox, Timothy M, Hendriks, Erik J, Morris, Elizabeth, Akkerman, Erik M, Maas, Mario, Groener, Johanna E M, Aerts, Johannes M F G, Deegan, Patrick B, Hollak, Carla E M

“…This paper describes the effects of a switch to velaglucerase alfa in a group of adult patients with type 1 Gaucher disease, all of whom had previously had…”
Get full text

Gender-Related Differences in the Metabolic Response to Fasting by Soeters, Maarten R., Sauerwein, Hans P., Groener, Johanna E., Aerts, Johannes M., Ackermans, Mariëtte T., Glatz, Jan F. C., Fliers, Eric, Serlie, Mireille J.

“…Context: Free fatty acids (FFA) may induce insulin resistance via synthesis of intramyocellular ceramide. During fasting, women have lower plasma glucose…”
Get full text

Monitoring of Gaucher patients with a novel chitotriosidase assay by Schoonhoven, Aricha, Rudensky, Bernard, Elstein, Debbie, Zimran, Ari, Hollak, Carla E.M., Groener, Johanna E., Aerts, Johannes M.F.G.

“…Chitotriosidase (CT) is a surrogate plasma marker for Gaucher disease. The enzyme is released by storage cells and is on average thousand fold elevated in…”
Get full text