Search Results - "Reuser, Arnold J.J"

How to describe the clinical spectrum in Pompe disease? by Güngör, Deniz, Reuser, Arnold J.J.

Get full text

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse by Kamphoven, Joep H.J, de Ruiter, Martijn M, Winkel, Leon P.F, Van den Hout, Hannerieke M.P, Bijman, Jan, De Zeeuw, Chris I, Hoeve, Hans L, Van Zanten, Bert A, Van der Ploeg, Ans T, Reuser, Arnold J.J

“…Hearing deficit occurs in several lysosomal storage disorders but has so far not been recognized as a symptom of Pompe's disease (glycogen storage disease type…”
Get full text

Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease by Stok, Merel, de Boer, Helen, Huston, Marshall W., Jacobs, Edwin H., Roovers, Onno, Visser, Trudi P., Jahr, Holger, Duncker, Dirk J., van Deel, Elza D., Reuser, Arnold J.J., van Til, Niek P., Wagemaker, Gerard

“…Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive muscle weakness. The disease is caused by mutations in the acid…”
Get full text

The Natural Course of Infantile Pompe's Disease: 20 Original Cases Compared With 133 Cases From the Literature by van den Hout, Hannerieke M. P, Hop, Wim, van Diggelen, Otto P, Smeitink, Jan A. M, Smit, G. Peter A, Poll-The, Bwee-Tien T, Bakker, Henk D, Loonen, M. Christa B, de Klerk, Johannis B. C, Reuser, Arnold J. J, van der Ploeg, Ans T

“…Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study…”
Get full text

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes by Okumiya, Toshika, Keulemans, Joke L.M., Kroos, Marian A., Van der Beek, Nadine M.E., Boer, Marijke A., Takeuchi, Hiroaki, Van Diggelen, Otto P., Reuser, Arnold J.J.

“…We have established a new method for the enzymatic diagnosis of glycogen storage disease type II (Pompe disease or acid maltase deficiency) using mixed…”
Get full text

Design and validation of a metabolic disorder resequencing microarray (BRUM1) by Bruce, Christopher K, Smith, Matthew, Rahman, Fatima, Liu, Zhi-feng, McMullan, Dominic J, Ball, Sarah, Hartley, Jane, Kroos, Marian A, Heptinstall, Lesley, Reuser, Arnold J.J, Rolfs, Arndt, Hendriksz, Chris, Kelly, Deirdre A, Barrett, Timothy G, MacDonald, Fiona, Maher, Eamonn R, Gissen, Paul

“…The molecular genetic diagnosis of inherited metabolic disorders is challenging. The diseases are rare, and most show locus heterogeneity. Hence, testing of…”
Get full text

Structural modeling of mutant α-glucosidases resulting in a processing transport defect in Pompe disease by Sugawara, Kanako, Saito, Seiji, Sekijima, Masakazu, Ohno, Kazuki, Tajima, Youichi, Kroos, Marian A, Reuser, Arnold J J, Sakuraba, Hitoshi

“…To elucidate the mechanism underlying transport and processing defects from the viewpoint of enzyme folding, we constructed three-dimensional models of human…”
Get full text

Survival and Prognostic Factors Prior to Enzyme Replacement Therapy in 302 Children and Adults with Pompe Disease by Güngör, Deniz, de Vries, Juna M, Hop, Wim C.J, Reuser, Arnold J.J, van Doorn, Pieter A, van der Ploeg, Ans T, Hagemans, Marloes L.C

Get full text

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers by van den Berg, Linda E.M, de Vries, Juna M, Verdijk, Robert M, van der Ploeg, Ans T, Reuser, Arnold J.J, van Doorn, Pieter A

“…Abstract We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia…”
Get full text

Low bone mass in Pompe disease by van den Berg, Linda E.M, Zandbergen, Adrienne A, van Capelle, Carine I, de Vries, Juna M, Hop, Wim C, van den Hout, Johanna M, Reuser, Arnold J.J, Zillikens, M. Carola, van der Ploeg, Ans T

“…Abstract Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase. The introduction of enzyme replacement therapy as…”
Get full text

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn by Kroos, Marian A, Kirschner, Janbernd, Gellerich, Frank N, Hermans, Monique M.P, Van der Ploeg, Ans T, Reuser, Arnold J.J, Korinthenberg, Rudolf

“…A six-year-old child presented at 8 months of age with proximal muscle weakness and mild cardiac hypertrophy. Some α-glucosidase activity was detected in…”
Get full text

The genotype-phenotype correlation in Pompe disease by Kroos, Marian, Hoogeveen-Westerveld, Marianne, van der Ploeg, Ans, Reuser, Arnold J.J.

“…Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that is caused by acid α‐glucosidase (GAA) deficiency and is due to pathogenic…”
Get full text

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…”
Get full text

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease by van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.

“…Background Enzyme-replacement therapy (ERT) in Pompe disease—an inherited metabolic disorder caused by acid α-glucosidase deficiency and characterized in…”
Get full text

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II by Hermans, Monique M.P., Leenen, Dik van, Kroos, Marian A., Beesley, Clare E., Van der Ploeg, Ans T., Sakuraba, Hitoshi, Wevers, Ron, Kleijer, Wim, Michelakakis, Helen, Kirk, Edwin P., Fletcher, Janice, Bosshard, Nils, Basel-Vanagaite, Lina, Besley, Guy, Reuser, Arnold J.J.

“…Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid ±-glucosidase deficiency. The disease…”
Get full text

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up by Güngör, Deniz, Kruijshaar, Michelle E., Plug, Iris, Rizopoulos, Dimitris, Kanters, Tim A., Wens, Stephan C. A., Reuser, Arnold J. J., van Doorn, Pieter A., van der Ploeg, Ans T.

“…Summary Background Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT…”
Get full text

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study by Güngör, Deniz, Kruijshaar, Michelle E, Plug, Iris, D'Agostino, Ralph B, Hagemans, Marloes L C, van Doorn, Pieter A, Reuser, Arnold J J, van der Ploeg, Ans T

“…Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy…”
Get full text

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

“…Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive…”
Get full text

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study by van der Beek, Nadine A M E, de Vries, Juna M, Hagemans, Marloes L C, Hop, Wim C J, Kroos, Marian A, Wokke, John H J, de Visser, Marianne, van Engelen, Baziel G M, Kuks, Jan B M, van der Kooi, Anneke J, Notermans, Nicolette C, Faber, Karin G, Verschuuren, Jan J G M, Reuser, Arnold J J, van der Ploeg, Ans T, van Doorn, Pieter A

“…Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the…”
Get full text

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry by Hermans, Monique M. P., Kroos, Marian A., Smeitink, Jan A. M., van der Ploeg, Ans T., Kleijer, Wim J., Reuser, Arnold J. J.

“…Glycogen Storage Disease type II (GSDII) is caused by the deficiency of lysosomal α‐glucosidase (acid maltase). This paper reports on the characterization of…”
Get full text