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D-Index
70
Citations
14474
World Ranking
7148
National Ranking
185

Overview

Arnold J. J. Reuser is affiliated with Erasmus University Rotterdam in the Netherlands. Their research spans across multiple disciplines within medicine and life sciences, focusing significantly on lysosomal storage disorders and related biochemical pathways.

Reuser's work is situated mainly within the fields of Medicine and Biochemistry, Genetics, and Molecular Biology. Their subfield expertise includes Physiology, Molecular Biology, and Rheumatology. The core topics explored in their publications involve:

  • Lysosomal Storage Disorders Research
  • Biochemical and Molecular Research
  • Adenosine and Purinergic Signaling
  • Glycogen Storage Diseases and Myoclonus

Their recent research contributions include two notable papers:

  • "Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease," published in 2020 in Molecular Therapy - Methods & Clinical Development
  • "Plain Language Summary: How The Pompe Registry Is Helping To Identify and Explain Gene Changes in Pompe Disease," published in 2022 in Future Rare Diseases

These publications reflect a targeted interest in Pompe disease, a subset of lysosomal storage disorders, with implications for gene therapy and patient registry use to better understand genetic variations.

Reuser frequently collaborates with a range of researchers across related fields. Regular co-authors include Merel Stok, Helen de Boer, Marshall W. Huston, Edwin H. Jacobs, and Onno Roovers. Their joint work contributes to both clinical and molecular perspectives on rare diseases.

Publication venues associated with Reuser's work highlight specialized journals in clinical development and rare diseases, specifically:

  • Molecular Therapy - Methods & Clinical Development
  • Future Rare Diseases

Collectively, the scope of Reuser's scholarly output demonstrates a consistent focus on understanding disease mechanisms, developing therapeutic approaches, and improving knowledge dissemination in genetic and lysosomal disorders.

Best Publications

  • Pompe's disease.

    Ans T. van der Ploeg;Arnold J. J. Reuser

  • Interaction Between Hamartin and Tuberin, the TSC1 and TSC2 Gene Products

    Marjon van Slegtenhorst;Mark Nellist;Bas Nagelkerken;Jeremy Cheadle

  • The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature

    Hannerieke M. P. van den Hout;Wim Hop;Otto P. van Diggelen;Jan A. M. Smeitink

  • Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

    C. Verheij;C. E. Bakker;E. De Graaff;J. Keulemans

  • The natural course of non-classic Pompe's disease; a review of 225 published cases.

    Léon P F Winkel;Marloes L C Hagemans;Pieter A van Doorn;M Christa B Loonen

  • Recombinant human α-glucosidase from rabbit milk in Pompe patients

    Hannerieke Van den Hout;Arnold Jj Reuser;Arnold G Vulto;M Christa B Loonen

  • Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.

    H. A. Wisselaar;M. A. Kroos;M. M. P. Hermans;J. Van Beeumen

  • Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

    L. H. Hoefsloot;M. Hoogeveen-Westerveld;M. A. Kroos;J. Van Beeumen

  • Glycogenosis type II (acid maltase deficiency)

    A. J. J. Reuser;M. A. Kroos;M. M. P. Hermans;A. G. A. Bijvoet

  • Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

    M. A. Kroos;R. J. Pomponio;M. L. Hagemans;J.L.M. Keulemans

  • Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

    Agnes G.A. Bijvoet;Esther H.M. van de Kamp;Marian A. Kroos;Jia-Huan Ding

  • Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

    Monique M.P. Hermans;Dik van Leenen;Marian A. Kroos;Clare E. Beesley

  • Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

    Marian Kroos;Robert J. Pomponio;Laura van Vliet;Rachel E. Palmer

  • Characterization of the human lysosomal alpha-glucosidase gene.

    L H Hoefsloot;M Hoogeveen-Westerveld;A J J Reuser;B A Oostra

  • Biochemical, immunological, and cell genetic studies in glycogenosis type II.

    A J Reuser;J F Koster;A Hoogeveen;H Galjaard

  • Human Acid α-Glucosidase from Rabbit Milk Has Therapeutic Effect in Mice with Glycogen Storage Disease Type II

    Agnes G. A. Bijvoet;Hans Van Hirtum;Marian A. Kroos;Esther H. M. Van de Kamp

  • Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

    Nadine A. M. E. van der Beek;Nadine A. M. E. van der Beek;Juna M. de Vries;Juna M. de Vries;Marloes L. C. Hagemans;Wim C. J. Hop

  • The genotype-phenotype correlation in Pompe disease

    Marian Kroos;Marianne Hoogeveen-Westerveld;Ans van der Ploeg;Arnold J.J. Reuser

  • Recombinant Human Acid α-Glucosidase: High Level Production in Mouse Milk, Biochemical Characteristics, Correction of Enzyme Deficiency in GSDII KO Mice

    Agnes G. A. Bijvoet;Agnes G. A. Bijvoet;Marian A. Kroos;Frank R. Pieper;Martin Van der Vliet

  • TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin–hamartin complex

    Mark Nellist;Brenda Verhaaf;Miriam A. Goedbloed;Arnold J.J. Reuser

Frequent Co-Authors

Hans Galjaard
Hans Galjaard Erasmus University Rotterdam
Ben A. Oostra
Ben A. Oostra Erasmus University Rotterdam
Wim C. J. Hop
Wim C. J. Hop Erasmus University Rotterdam
Dicky J. J. Halley
Dicky J. J. Halley Erasmus University Rotterdam
J. M. Tager
J. M. Tager University of Amsterdam
Rob Willemsen
Rob Willemsen Erasmus University Rotterdam
Edward I. Ginns
Edward I. Ginns University of Massachusetts Chan Medical School
Wim J. Kleijer
Wim J. Kleijer Erasmus University Rotterdam
John A. Barranger
John A. Barranger University of Pittsburgh
Lies H. Hoefsloot
Lies H. Hoefsloot Erasmus University Rotterdam

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