Search Results - "Van Der Ploeg, Ans T."

Mucolipidosis type II and type III: a systematic review of 843 published cases by Dogterom, Emma J., Wagenmakers, Margreet A. E. M., Wilke, Martina, Demirdas, Serwet, Muschol, Nicole M., Pohl, Sandra, Meijden, Jan C. van der, Rizopoulos, Dimitris, Ploeg, Ans T. van der, Oussoren, Esmée

“…Purpose Mucolipidosis (ML) II, MLIII alpha/beta, and MLIII gamma are rare autosomal recessive lysosomal storage disorders. Data on the natural course of the…”
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Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease by van der Wal, Erik, Bergsma, Atze J., Pijnenburg, Joon M., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

“…The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and…”
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A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses by Langereis, Eveline J, Wagemans, Tom, Kulik, Wim, Lefeber, Dirk J, van Lenthe, Henk, Oussoren, Esmee, van der Ploeg, Ans T, Ruijter, George J, Wevers, Ron A, Wijburg, Frits A, van Vlies, Naomi

“…Diagnosis of the mucopolysaccharidoses (MPSs) generally relies on an initial analysis of total glycosaminoglycan (GAG) excretion in urine. Often the…”
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GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells by van der Wal, Erik, Bergsma, Atze J., van Gestel, Tom J.M., in ‘t Groen, Stijn L.M., Zaehres, Holm, Araúzo-Bravo, Marcos J., Schöler, Hans R., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

“…Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells…”
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Prenatal Enzyme-Replacement Therapy by van der Ploeg, Ans T.

“…This editorial explains the genetic basis of Pompe’s disease and other lysosomal storage disorders, as well as the foundations of enzyme-replacement therapy…”
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Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients by van der Meijden, Jan C, Kruijshaar, Michelle E, Rizopoulos, Dimitris, van Doorn, Pieter A, van der Beek, Nadine A M E, van der Ploeg, Ans T

“…Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and…”
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Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review by Ditters, Imke A. M, van Kooten, Harmke A, van der Beek, Nadine A. M. E, van der Ploeg, Ans T, Huidekoper, Hidde H, van den Hout, Johanna M. P

“…Background: Pompe disease is a lysosomal storage disease characterised by skeletal and respiratory muscle weakness. Since 2006, enzyme replacement therapy…”
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Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease by Schaaf, Gerben J, van Gestel, Tom J M, In 't Groen, Stijn L M, de Jong, Bart, Boomaars, Björn, Tarallo, Antonietta, Cardone, Monica, Parenti, Giancarlo, van der Ploeg, Ans T, Pijnappel, W W M Pim

“…Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA)…”
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Pompe's disease by van der Ploeg, Ans T, Dr, Reuser, Arnold JJ, PhD

“…Summary Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a…”
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The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy by van der Ploeg, Ans T

“…If you have made a diagnosis of spinal muscular atrophy (SMA) type 1 (also known as Werdnig–Hoffman disease) in a child, then you have vivid memories of…”
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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry by Reuser, Arnold J. J., Ploeg, Ans T., Chien, Yin‐Hsiu, Llerena, Juan, Abbott, Mary‐Alice, Clemens, Paula R., Kimonis, Virginia E., Leslie, Nancy, Maruti, Sonia S., Sanson, Bernd‐Jan, Araujo, Roberto, Periquet, Magali, Toscano, Antonio, Kishnani, Priya S., on behalf of the Pompe Registry Sites

“…Identification of variants in the acid α‐glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on…”
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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations by Velho, Renata Voltolini, Harms, Frederike L., Danyukova, Tatyana, Ludwig, Nataniel F., Friez, Michael J., Cathey, Sara S., Filocamo, Mirella, Tappino, Barbara, Güneş, Nilay, Tüysüz, Beyhan, Tylee, Karen L., Brammeier, Kathryn L., Heptinstall, Lesley, Oussoren, Esmee, Ploeg, Ans T., Petersen, Christine, Alves, Sandra, Saavedra, Gloria Durán, Schwartz, Ida V., Muschol, Nicole, Kutsche, Kerstin, Pohl, Sandra

“…Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited…”
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Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain by Ebbink, Berendine J, Poelman, Esther, Aarsen, Femke K, Plug, Iris, Régal, Luc, Muentjes, Carsten, Beek, Nadine A M E, Lequin, Maarten H, Ploeg, Ans T, Hout, Johanna M P

“…Aim To examine the long‐term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement…”
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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease by van der Ploeg, Ans T, Clemens, Paula R, Corzo, Deyanira, Escolar, Diana M, Florence, Julaine, Groeneveld, Geert Jan, Herson, Serge, Kishnani, Priya S, Laforet, Pascal, Lake, Stephen L, Lange, Dale J, Leshner, Robert T, Mayhew, Jill E, Morgan, Claire, Nozaki, Kenkichi, Park, Dorothy J, Pestronk, Alan, Rosenbloom, Barry, Skrinar, Alison, van Capelle, Carine I, van der Beek, Nadine A, Wasserstein, Melissa, Zivkovic, Sasa A

“…Pompe's disease is caused by a deficiency of acid alpha glucosidase, which degrades lysosomal glycogen. Late-onset Pompe's disease is characterized by…”
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“Building bridges”—An opportunity to connect, inspire, and innovate. SSIEM 2019 Annual Symposium in Rotterdam, The Netherlands by Ploeg, Ans T.

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Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease by Ernst, Martijn P.T., Broeders, Mike, Herrero-Hernandez, Pablo, Oussoren, Esmee, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

“…We present an overview of clinical trials involving gene editing using clustered interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9…”
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Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity by Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, Ploeg, Ans T., Pijnappel, W.W.M. Pim

“…Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current…”
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Sharpening the Molecular Scissors: Advances in Gene-Editing Technology by Broeders, Mike, Herrero-Hernandez, Pablo, Ernst, Martijn P.T., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

“…The ability to precisely modify human genes has been made possible by the development of tools such as meganucleases, zinc finger nucleases, TALENs, and…”
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Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges by Bayoumy, Sherif, Verberk, Inge M W, Vermunt, Lisa, Willemse, Eline, den Dulk, Ben, van der Ploeg, Ans T, Pajkrt, Dasja, Nitz, Elisa, van den Hout, Johanna M P, van der Post, Julie, Wolf, Nicole I, Beerepoot, Shanice, Groen, Ewout J N, Tüngler, Victoria, Teunissen, Charlotte E

“…Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive neuromuscular degeneration resulting from…”
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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening by Faria, Douglas O. S., Groen, Stijn L. M., Hoogeveen‐Westerveld, Marianne, Niño, Monica Y., Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim

“…Pompe disease is an inherited disorder caused by disease‐associated variants in the acid α‐glucosidase gene (GAA). The Pompe disease GAA variant database…”
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