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D-Index
79
Citations
21483
World Ranking
17623
National Ranking
663

Overview

Frits A. Wijburg is affiliated with the University of Amsterdam in the Netherlands and has a significant research presence in the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Their scholarly contributions span interdisciplinary topics, particularly focusing on metabolism, genetic disorders, and neurodevelopmental conditions.

The primary areas of study include:

  • Medicine
  • Biochemistry, Genetics and Molecular Biology

Within these broader fields, Wijburg's work further specializes in several subfields such as Clinical Biochemistry, Molecular Biology, Genetics, Physiology, and Pediatrics, Perinatology, and Child Health.

  • Clinical Biochemistry
  • Molecular Biology
  • Genetics
  • Physiology
  • Pediatrics, Perinatology and Child Health

The range of main research topics covered by Wijburg includes Metabolism and Genetic Disorders, Lysosomal Storage Disorders Research, Family and Disability Support Research, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Cystic Fibrosis Research Advances, and Folate and B Vitamins Research.

  • Metabolism and Genetic Disorders
  • Lysosomal Storage Disorders Research
  • Family and Disability Support Research
  • Genetics and Neurodevelopmental Disorders
  • Mitochondrial Function and Pathology
  • Cystic Fibrosis Research Advances
  • Folate and B Vitamins Research

Notable recent papers authored or co-authored by Wijburg include:

  • Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, 2020, Journal of Inherited Metabolic Disease
  • Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders, 2021, Neurology
  • Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor, 2020, Frontiers in Cell and Developmental Biology
  • Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency, 2020, Journal of Inherited Metabolic Disease
  • High dose genistein in Sanfilippo syndrome: A randomised controlled trial, 2021, Journal of Inherited Metabolic Disease

Frequent co-authors collaborating with Wijburg reflect a network of expertise in related biomedical research fields. These include:

  • Gepke Visser
  • Sacha Ferdinandusse
  • Riekelt H. Houtkooper
  • Ronald J. A. Wanders
  • Frédéric M. Vaz

Publication venues where Wijburg's work appears most often include:

  • Molecular Genetics and Metabolism
  • Journal of Inherited Metabolic Disease
  • Orphanet Journal of Rare Diseases
  • European Journal of Human Genetics
  • Neurology

Best Publications

  • Elevated globotriaosylsphingosine is a hallmark of Fabry disease

    Johannes M. Aerts;Johanna E. Groener;Sijmen Kuiper;Wilma E. Donker-Koopman

  • Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

    Matthias R Baumgartner;Friederike Hörster;Carlo Dionisi-Vici;Goknur Haliloglu

  • Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

    Marc C. Patterson;Christian J. Hendriksz;Mark Walterfang;Frederic Sedel

  • Sanfilippo syndrome: a mini-review.

    M. J. Valstar;G. J. G. Ruijter;O. P. van Diggelen;B. J. Poorthuis

  • Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

    Marieke Biegstraaten;Reynir Arngrímsson;Frederic Barbey;Lut Boks

  • Statin Treatment in Children With Familial Hypercholesterolemia. The Younger, the Better

    Jessica Rodenburg;Maud N. Vissers;Albert Wiegman;A. S. Paul van Trotsenburg

  • Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

    Nick Dekker;Laura van Dussen;Carla E. M. Hollak;Herman Overkleeft

  • Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

    Maarten Arends;Christoph Wanner;Derralynn Hughes;Atul Mehta

  • A Systematic Review and Meta-Analysis of Statin Therapy in Children With Familial Hypercholesterolemia

    H.J. Avis;M.N. Vissers;E.A. Stein;F.A. Wijburg

  • Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.

    A. M. Motley;E. H. Hettema;E. M. Hogenhout;P. Brites

  • Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

    S. M. Rombach;N. Dekker;M. G. Bouwman;G. E. Linthorst

  • Recommendations on the diagnosis and management of Niemann-Pick disease type C

    James E. Wraith;Matthias R. Baumgartner;Bruno Bembi;Athanasios Covanis

  • Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

    Annet M. Bosch;Nico G. G. M. Abeling;Lodewijk IJlst;Hennie Knoester

  • Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

    Hans R. Waterham;Frits A. Wijburg;Raoul C.M. Hennekam;Peter Vreken

  • Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Thomas Cullup;Ay Lin Kho;Carlo Dionisi-Vici;Birgit Brandmeier

  • Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

    Minke H de Ru;Jaap J Boelens;Anibh M Das;Simon A Jones

  • The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    Stefan Kölker;Angeles Garcia Cazorla;Vassili Valayannopoulos;Allan M. Lund

  • Disease and patient characteristics in NP-C patients: findings from an international disease registry.

    Marc C Patterson;Eugen Mengel;Frits A Wijburg;Audrey Muller

  • Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients

    Margarethe E. J. den Boer;Ronald J. A. Wanders;Andrew A. M. Morris;Lodewijk IJlst

  • The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Stefan Kölker;Vassili Valayannopoulos;Alberto B. Burlina;Jolanta Sykut-Cegielska

Frequent Co-Authors

Ronald J.A. Wanders
Ronald J.A. Wanders University of Amsterdam
Lodewijk IJlst
Lodewijk IJlst University of Amsterdam
Hans R. Waterham
Hans R. Waterham University of Amsterdam
Simon Jones
Simon Jones Microsoft (United States)
Marinus Duran
Marinus Duran University of Amsterdam
Roberto Giugliani
Roberto Giugliani Federal University of Rio Grande do Sul
Sacha Ferdinandusse
Sacha Ferdinandusse University of Amsterdam
Johannes M. F. G. Aerts
Johannes M. F. G. Aerts Leiden University
John J.P. Kastelein
John J.P. Kastelein University of Amsterdam
Jos P.N. Ruiter
Jos P.N. Ruiter University of Amsterdam

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