Carla E. M. Hollak

ScholarGPS® ID: 73352433941327

Affiliation
University of Amsterdam, Amsterdam, Netherlands
Affiliation History

Field
Medicine
Discipline
Endocrinology
Top Specialties
Gaucher's Disease | Fabry Disease | Metabolism | Enzyme | Metabolic Disorder | Molecular Genetics | Enzyme Replacement Therapy | Blood Plasma | Rare Disease | Blood Cell | Biomarker | Bone Marrow | Antibody | Medical Imaging | Organ Transplantation
Metrics Summary
Publication Count
356
Predicted Citations
20,895
Predicted h-index
80
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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Perspectives and Update on the Global Shortage of Verteporfin (Visudyne®) (journal article)
Sirks, Marc J. | Subhi, Yousif | Rosenberg, Noa | Hollak, Carla E. M. | Boon, Camiel J. F. | Diederen, Roselie M. H. | Yzer, Suzanne | Ossewaarde-van Norel, Jeannette | de Jong-Hesse, Yvonne | Schlingemann, Reinier O. | ... | van Dijk, Elon H. C.
Ophthalmology and Therapy, volume 13, issue 7, pages 1821-1831 (2024).
10.1007/s40123-024-00952-9
Cite | Source
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients (journal article)
Hermans, Merel E. | Geurtsen, Gert J. | Hollak, Carla E. M. | Bosch, Annet M.
JIMD Reports, volume 65, issue 2, pages 110-115 (2024).
10.1002/jmd2.12410
Cited by (1) | Cite | Source
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment (journal article)
Derks, Terry G. J. | Venema, Annieke | Köller, Clara | Bos, Eline | Overduin, Ruben J. | Stolwijk, Nina N. | Hofbauer, Peter | Bolhuis, Mathieu S. | van Eenennaam, Fred | Groen, Henk | ... | Wortmann, Saskia B.
Journal of Inherited Metabolic Disease, volume 47, issue 2, pages 244-254 (2024).
10.1002/jimd.12714
Cited by (3) | Cite | Source
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability (journal article)
Hermans, Merel E. | Geurtsen, Gert J. | Hollak, Carla E.M. | Janssen, Mirian C.H. | Langendonk, Janneke G. | Merckelbach, Valerie L.V. | Oussoren, Esmee | Oostrom, Kim J. | Bosch, Annet M.
Acta Neuropsychiatrica (2024).
10.1017/neu.2023.61
Cited by (1) | Cite | Source
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism (journal article)
Stolwijk, N. N. | Bosch, A. M. | Bouwhuis, N. | Häberle, J. | van Karnebeek, C. | van Spronsen, F. J. | Langeveld, M. | Hollak, C. E. M.
Journal of Inherited Metabolic Disease, volume 46, issue 6, pages 1017-1028 (2023).
10.1002/jimd.12677
Cited by (2) | Cite | Source
Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study (journal article)
Baas, Koen P.A. | Everard, Albert J. | Körver, Simon | van Dussen, Laura | Coolen, Bram F. | Strijkers, Gustav J. | Hollak, Carla E.M. | Nederveen, Aart J.
American Journal of Neuroradiology, volume 44, issue 10, pages 1157-1164 (2023).
10.3174/ajnr.A8001
Cited by (1) | Cite | Source
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships (journal article)
Rosenberg, Noa | Stolwijk, Nina N. | van den Berg, Sibren | Heus, Joris J. | van der Wel, Vincent | van Gelder, Teun | Bosch, Annet M. | de Visser, Saco J. | Hollak, Carla E. M.
Journal of Inherited Metabolic Disease, volume 46, issue 5, pages 806-816 (2023).
10.1002/jimd.12605
Cited by (4) | Cite | Source
Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency (journal article)
Eskes, Eline C.B. | van der Lienden, Martijn J.C. | Sjouke, Barbara | van Vliet, Laura | Brands, Marion M.M.G. | Hollak, Carla E.M. | Aerts, Johannes M.F.G.
Molecular Genetics and Metabolism, volume 139, issue 4, pages 107631- (2023).
10.1016/j.ymgme.2023.107631
Cited by (3) | Cite | Source
The challenges of classical galactosemia: HRQoL in pediatric and adult patients (journal article)
Hermans, Merel E. | van Oers, Hedy A. | Geurtsen, Gert J. | Haverman, Lotte | Hollak, Carla E. M. | Rubio-Gozalbo, M. Estela | Bosch, Annet M.
Orphanet Journal of Rare Diseases, volume 18, issue 1 (2023).
10.1186/s13023-023-02749-8
Cited by (4) | Cite | Source
Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation (journal article)
van Kuilenburg, André B. P. | Hollak, Carla E. M. | Travella, Ana | Jacobs, Melisa | Gentilini, Lucas D. | Leen, René | der Vlugt, Karen M. M. Ghauharali-van | Stet, Femke S. Beers | Goorden, Susan M. I. | van der Veen, Sanne | ... | Papouchado, Mariana
Drugs in R&D, volume 23, issue 2, pages 141-153 (2023).
10.1007/s40268-023-00421-x
Cited by (1) | Cite | Source
Access to medicines for rare diseases: A European regulatory roadmap for academia (journal article)
Rosenberg, Noa | van den Berg, Sibren | Stolwijk, Nina N. | Jacobs, Bart A. W. | Post, Hendrika C. | Pasmooij, Anna M. G. | de Visser, Saco J. | Hollak, Carla E. M.
Frontiers in Pharmacology, volume 14 (2023).
10.3389/fphar.2023.1142351
Cited by (3) | Cite | Source
Product Validation and Stability Testing of Pharmacy Compounded Cholic Acid Capsules for Dutch Patients with Rare Bile Acid Synthesis Defects (journal article)
Polak, Yasmin | Jacobs, Bart A. W. | Bouwhuis, Natalja | Hollak, Carla E. M. | Kroon, Maurice A. G. M. | Kemper, Elles Marleen
Pharmaceutics, volume 15, issue 3, pages 773- (2023).
10.3390/pharmaceutics15030773
Cite | Source
ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study (journal article)
El Sayed, Mohamed | Postema, Pieter G. | Datema, Mareen | van Dussen, Laura | Kors, Jan A. | ter Haar, Cato C. | Bleijendaal, Hidde | Galenkamp, Henrike | van den Born, Bert-Jan H. | Hollak, Carla E. M. | Langeveld, Mirjam
Diagnostics, volume 13, issue 3, pages 354- (2023).
10.3390/diagnostics13030354
Cited by (2) | Cite | Source
Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels (journal article)
van der Veen, Sanne J. | Sayed, Mohamed el | Hollak, Carla E.M. | Brands, Marion M. | Snelder, C. Khya S. | Boekholdt, S. Matthijs | Vogt, Liffert | Goorden, Susan M.I. | van Kuilenburg, André B.P. | Langeveld, Mirjam
Clinical Journal of the American Society of Nephrology, volume 18, issue 10, pages 1272-1282 (2023).
10.2215/CJN.0000000000000239
Cited by (5) | Cite | Source
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways (journal article)
Hermans, Merel E. | van Weeghel, Michel | Vaz, Frédéric M. | Ferdinandusse, Sacha | Hollak, Carla E. M. | Huidekoper, Hidde H. | Janssen, Mirian C. H. | van Kuilenburg, André B. P. | Pras‐Raves, Mia L. | Wamelink, Mirjam M. C. | ... | Bosch, Annet M.
Journal of Inherited Metabolic Disease, volume 45, issue 6, pages 1094-1105 (2022).
10.1002/jimd.12548
Cited by (9) | Cite | Source
Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study (journal article)
Eskes, Eline C. B. | Beishuizen, Cathrien R. L. | Corazolla, Eleonore M. | van Middelaar, Tessa | Brands, Marion M. M. G. | Dekker, Hanka | van de Mheen, Erica | Langeveld, Mirjam | Hollak, Carla E. M. | Sjouke, Barbara
Orphanet Journal of Rare Diseases, volume 17, issue 1 (2022).
10.1186/s13023-022-02543-y
Cite | Source
Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report (journal article)
Stolwijk, Nina N. | Langeveld, Mirjam | Jacobs, Bart A. W. | Vogt, Liffert | Haverkamp, Jorien A. | Ferdinandusse, Sacha | Hollak, Carla E. M.
JIMD Reports, volume 63, issue 5, pages 407-413 (2022).
10.1002/jmd2.12309
Cite | Source
High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia (journal article)
Haring, Martijn P.D. | Peeks, Fabian | Oosterveer, Maaike H. | Brouwers, Martijn C.G.J. | Hollak, Carla E.M. | Janssen, Mirian C.H. | Langendonk, Janneke G. | Rennings, Alexander J.M. | Wagenmakers, Margreet A.E.M. | Verkade, Henkjan J. | ... | de Meijer, Vincent E.
JHEP Reports, volume 4, issue 8, pages 100512- (2022).
10.1016/j.jhepr.2022.100512
Cited by (10) | Cite | Source
A vitamin a day keeps the doctor away: The need for high quality pyridoxal-5′-phosphate (journal article)
Stolwijk, N.N. | Brands, M.M. | Smit, L.S. | van der Wel, V. | Hollak, C.E.M. | van Karnebeek, C.D.
European Journal of Paediatric Neurology, volume 39 (2022).
10.1016/j.ejpn.2022.04.011
Cited by (6) | Cite | Source
Gender- and Age-Associated Differences in Bone Marrow Adipose Tissue and Bone Marrow Fat Unsaturation Throughout the Skeleton, Quantified Using Chemical Shift Encoding-Based Water–Fat MRI (journal article)
Beekman, Kerensa M. | Regenboog, Martine | Nederveen, Aart J. | Bravenboer, Nathalie | den Heijer, Martin | Bisschop, Peter H. | Hollak, Carla E. | Akkerman, Erik M. | Maas, Mario
Frontiers in Endocrinology, volume 13 (2022).
10.3389/fendo.2022.815835
Cited by (14) | Cite | Source