World's Best Scientists 2026 revealed!
Carla E. M. Hollak

Carla E. M. Hollak

D-Index & Metrics

Medicine

D-Index
84
Citations
20215
World Ranking
15312
National Ranking
586

Overview

Carla E. M. Hollak is affiliated with Amsterdam UMC in the Netherlands. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with significant contributions in related subfields including Physiology, Molecular Biology, Economics and Econometrics, Clinical Biochemistry, and Organic Chemistry.

The scientist's work extensively covers topics such as Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Pharmaceutical Economics and Policy, Health Systems, Economic Evaluations, Quality of Life, Carbohydrate Chemistry and Synthesis, Diet and Metabolism Studies, and Sphingolipid Metabolism and Signaling.

Carla E. M. Hollak has published research in several frequent venues, including:

  • Journal of Inherited Metabolic Disease
  • Orphanet Journal of Rare Diseases
  • Molecular Genetics and Metabolism
  • Value in Health
  • JIMD Reports

Selected recent publications include:

  • Developments in the treatment of Fabry disease, 2020, Journal of Inherited Metabolic Disease
  • A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results, 2022, Genetics in Medicine
  • Clinical impact of the worldwide shortage of verteporfin (Visudyne®) on ophthalmic care, 2022, Acta Ophthalmologica
  • Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B), 2023, Orphanet Journal of Rare Diseases
  • Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease, 2020, International Journal of Molecular Sciences

Frequent collaborators in research include Mirjam Langeveld, Annet M. Bosch, Sibren van den Berg, Marion M. Brands, and André B. P. Kuilenburg.

Best Publications

  • Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

    C. E. M. Hollak;S. Van Weely;M. H. J. Van Oers;J. M. F. G. Aerts

  • Elevated globotriaosylsphingosine is a hallmark of Fabry disease

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

  • Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention.

    Rolf G. Boot;Marri Verhoek;Maaike de Fost;Carla E. M. Hollak

  • 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

  • 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

  • Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta.

    Gabor E. Linthorst;Carla E.M. Hollak;Wilma E. Donker-Koopman;Anneke Strijland

  • Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

    D. Elstein;C. Hollak;J. M. F. G. Aerts;S. van Weely

  • The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.

    T. M. Cox;J. M. F. G. Aerts;G. Andria;M. Beck

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

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

  • Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

    Yufeng Guo;Wang He;A. M. Boer;R. A. Wevers

  • Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg.

    Anouk C. Vedder;Gabor E. Linthorst;Gunnar Houge;Johannna E.M. Groener

  • The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels

    A. C. Vedder;G. E. Linthorst;M. J. van Breemen;J. E. M. Groener

  • Increased incidence of cancer in adult Gaucher disease in Western Europe.

    M. de Fost;S. vom Dahl;G.J. Weverling;N. Brill

  • Plasma and metabolic abnormalities in Gaucher's disease.

    Johannes M.F.G. Aerts;Carla E.M. Hollak

  • Elevated Levels of M-CSF, sCD14 and IL8 in Type 1 Gaucher Disease☆☆☆

    C.E.M. Hollak;L.M. Evers;J.M.F.G. Aerts;M.H.J. van Oers

  • Screening for Fabry disease in high-risk populations: a systematic review

    Gabor E Linthorst;Machtelt G Bouwman;Frits A Wijburg;Johannes Mfg Aerts

  • 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

    Maaike de Fost;Carla E M Hollak;Johanna E M Groener;Johannes M F G Aerts

  • Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience

    Mario Maas;Cornelis van Kuijk;Jaap Stoker;Carla E M Hollak

  • Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

    Anouk C. Vedder;Frank Breunig;Wilma E. Donker-Koopman;Kevin Mills

Frequent Co-Authors

Johannes M. F. G. Aerts
Johannes M. F. G. Aerts Leiden University
Marcel G. W. Dijkgraaf
Marcel G. W. Dijkgraaf University of Amsterdam
Herman S. Overkleeft
Herman S. Overkleeft Leiden University
Jaap Stoker
Jaap Stoker University of Amsterdam
Maria Domenica Cappellini
Maria Domenica Cappellini University of Milan
Frits A. Wijburg
Frits A. Wijburg University of Amsterdam
Peter L.M. Jansen
Peter L.M. Jansen Maastricht University
Paul Lips
Paul Lips Vrije Universiteit Amsterdam
Rolf G. Boot
Rolf G. Boot Leiden University
Timothy M. Cox
Timothy M. Cox University of Cambridge

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring a career in medicine opens up a variety of online education options, especially for those seeking flexibility or a fast-track to advanced roles. For nurses with a master’s degree, enrolling in the shortest post master's dnp program can be an efficient way to advance clinical and leadership skills. Some nurses may prefer enrolling in the shortest dnp program, allowing them to complete a doctorate in nursing practice more quickly.

If you’re starting your nursing career, the lpn program is an excellent entry point, offering a swift way to join the healthcare workforce. Those interested in mental health may look into the msn to pmhnp online route, enabling registered nurses to become Psychiatric Mental Health Nurse Practitioners in an accelerated format.

Each of these online degree options offers unique benefits—whether it’s a shorter completion time, ease of access, or a targeted career focus—helping future healthcare professionals chart a path in medicine that fits their lifestyle and goals.

Best Scientists Citing Carla E. M. Hollak

Trending Scientists

Recently Published Articles