Research output per year
Research output per year
Research output
- 1 - 50 out of 979 results
Search results
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2025
Association Between Lipoprotein(a) and Arterial Stiffness in Young Adults with Familial Hypercholesterolemia
van den Bosch, S. E., Boer, L. M. D., Revers, A., Schrauben, E. M., Ooij, P. V., Nederveen, A. J., Corpeleijn, W. E., Kastelein, J. J. P., Wiegman, A. & Hutten, B. A., 1 Mar 2025, In: Clinical Chemistry. 14, 5, 1611.Research output: Contribution to journal › Article › Academic › peer-review
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Association between statin adherence and arterial stiffness in young adult patients with familial hypercholesterolemia: A cross-sectional study
van den Bosch, S. E., Hutten, B. A., Revers, A., Schrauben, E. M., van Ooij, P., Nederveen, A. J., Corpeleijn, W. E. & Wiegman, A., 1 May 2025, In: Atherosclerosis. 404, 119175.Research output: Contribution to journal › Article › Academic › peer-review
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Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter
Triñanes-Ramos, J., Bugiani, M., van Rooijen-van Leeuwen, G., Chevalier, J. A., Siu, Y. J., van Utenhove, E. L. H., Hoogterp, L., Witkamp, D., Oudejans, E., Lodder, B., Kole, M., Saher, G., Nave, K.-A., Abbink, T. E. M. & van der Knaap, M. S., 6 May 2025, (E-pub ahead of print) In: Brain.Research output: Contribution to journal › Article › Academic › peer-review
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Effect of Exercise or Combined Exercise and Diet Intervention on Sleep and Fatigue in Kidney Transplant Recipients
Knobbe, T. J., Kremer, D., van der Meulen, M. L., Bemelman, F. J., Berger, S. P., Navis, G., Bakker, S. J. L. & ACTx collaborators, Jul 2025, In: Kidney International Reports. 10, 7, p. 2233-2242 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Effect of lifestyle intervention on systemic oxidative stress in kidney transplant recipients: A post-hoc analysis of the Active Care after Transplantation (ACT) randomized controlled trial
Bourgonje, A. R., Knobbe, T. J., Kremer, D., Bulthuis, M. L. C., Bemelman, F. J., Berger, S. P., Navis, G. J., Bakker, S. J. L. & ACTx collaborators, 1 May 2025, In: Free Radical Biology and Medicine. 232, p. 412-420 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Electroencephalogram (EEG) network-level excitation-inhibition in GRIN2B-related neurodevelopmental disorders: a pilot case-control series
Ramautar, J. R., den Hollander, B., Kooper, C. C., Candellero, M., Diachenko, M., Sharma, A., Asbreuk, M. A. B. C., Sprengers, J. J., van Haelst, M. M., van Karnebeek, C. D., Linkenkaer-Hansen, K. & Bruining, H., 2025, In: Rare Disease and Orphan Drugs Journal. 4, 1, 1.Research output: Contribution to journal › Article › Academic › peer-review
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Homozygous Familial Hypercholesterolemia Is a Life-Limiting Condition: Medical Life-Trajectories in the Post-2010 Era
Mulder, J. W. C. M., Reijman, M. D., Kusters, D. M., Boersma, E., Alnouri, F., Blom, D. J., Catapano, A. L., Cuchel, M., Dann, E. J., Freiberger, T., Groselj, U., Harada-Shiba, M., Hovingh, G. K., Iatan, I., Ibarretxe, D., Kayikcioglu, M., Kim, N.-T., Klingel, R., Raal, F. J. & Reeskamp, L. F. & 42 others, , 20 May 2025, In: Journal of the American College of Cardiology. 85, 19, p. 1898-1903 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals
Stolwijk, N. N., Häberle, J., Huidekoper, H. H., Wagenmakers, M. A. E. M., Hollak, C. E. M., Bosch, A. M. & the E-IMD and MetabERN Working Group on the Real-World Use of products for UCD Management, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12815.Research output: Contribution to journal › Article › Academic › peer-review
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Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Buijs, M. J. N., Balfoort, B. M., Brands, M. M., ten Asbroek, A. L. M. A., Boon, C. J. F., Diederen, R. M. H., Timmer, C., Wagenmakers, M. A. E. M., Waterham, H. R., Wanders, R. J. A., Houtkooper, R. H., van Karnebeek, C. D. & Bergen, A. A., 2025, (E-pub ahead of print) In: Acta ophthalmologica.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access -
More than meets the eye: A translational approach to gyrate atrophy of the choroid and retina
Balfoort, B. M., 2025, 327 p.Research output: PhD Thesis › Phd-Thesis - Research and graduation internal
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Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria
Eskes, E. C. B., van Dussen, L., Brands, M. M. M. G., Vaz, F. M., Aerts, J. M. F. G., van Kuilenburg, A. B. P., Sjouke, B. & Hollak, C. E. M., Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12789.Research output: Contribution to journal › Article › Academic › peer-review
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Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study
Balfoort, B. M., van den Broeck, F., Boon, C. J. F., Brouwers, M. C. G. J., Diederen, R. M. H., Dhillon, P. & GACR “Bird's Eye View” Consortium, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12842.Research output: Contribution to journal › Article › Academic › peer-review
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Real-world family planning and pregnancy practices in women with homozygous familial hypercholesterolemia
Mulder, J. W. C. M., Schonck, W. A. M., Tromp, T. R., Reijman, M. D., Reeskamp, L. F., Hovingh, G. K., Blom, D. J. & Roeters van Lennep, J. E., 1 May 2025, In: Atherosclerosis. 404, 119187.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology
van Karnebeek, C. D. M., Müller, A. R., Benkemoun, L., Boussaad, I., Cornel, M. C., IntHout, J., de Kort, M., de Oliveira Martins, S., Prigione, A., Rigter, T., Roes, K. C. B., Sanchez, A., Schipper, R., Wilkinson, M. D. & ’t Hoen, P. A. C., 1 Apr 2025, In: Molecular genetics and metabolism. 144, 4, 109073.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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Small numbers, big steps: Accelerating treatment trials for rare genetic metabolic diseases
den Hollander, B., 2025, 677 p.Research output: PhD Thesis › Phd-Thesis - Research and graduation internal
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The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
den Hollander, B., Hoytema van Konijnenburg, E. M. M., Hewitson, B., van der Meijden, J. C., Balfoort, B. M., Winter, B., Müller, A. R., Wasserman, W. W., Ferreira, C. R. & van Karnebeek, C. D., 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12835.Research output: Contribution to journal › Review article › Academic › peer-review
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Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach
Corazolla, E. M., Langeveld, M., Brands, M. M. M. G., Sjouke, B. & Hollak, C. E. M., 1 Mar 2025, In: JIMD reports. 66, 2, e70003.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
2024
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)
Balfoort, B. M., Van Den Broeck, F., Brands, M. M., van Karnebeek, C. D., Bergen, A. A., van den Born, L. I., Houtkooper, R. H., Wagenmakers, M. A. E. M., De Zaeytijd, J., Leroy, B. P., Boon, C. J. F. & Diederen, R. M. H., Nov 2024, In: Graefe s archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 262, 11, p. 3589-3596 8 p.Research output: Contribution to journal › Article › Academic › peer-review
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A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions
Brands, M., Balfoort, B., Acharya, K., Bergen, A., Brunetti-Pierri, N., Buijs, M., Cellini, B., Schultink, P., Singh, M. & GACR Bird's Eye View Consortium, 1 Dec 2024, In: Molecular genetics and metabolism. 143, 4, 108609.Research output: Contribution to journal › Review article › Academic › peer-review
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Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders
Park, J., Bremova-Ertl, T., Brands, M., Foltan, T., Gautschi, M., Gissen, P., Hahn, A., Jones, S., Arash-Kaps, L., Kolnikova, M., Patterson, M., Perlman, S., Ramaswami, U., Reichmannová, S., Rohrbach, M., Schneider, S. A., Shaikh, A., Sivananthan, S., Synofzik, M. & Walterfarng, M. & 3 others, , 1 Oct 2024, In: Journal of neurology. 271, 10, p. 6888-6902 15 p.Research output: Contribution to journal › Article › Academic › peer-review
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Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Panis, B., Vos, E. N., Barić, I., Bosch, A. M., Brouwers, M. C. G. J., Burlina, A., Cassiman, D., Coman, D. J., Couce, M. L., Das, A. M., Demirbas, D., Empain, A., Gautschi, M., Grafakou, O., Grunewald, S., Kingma, S. D. K., Knerr, I., Leão-Teles, E., Möslinger, D. & Murphy, E. & 15 others, , Feb 2024, In: Frontiers in genetics. 15, 1355962.Research output: Contribution to journal › Article › Academic › peer-review
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Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen
den Hollander, B., Brands, M. M., Nijhuis, I. J. M., Doude van Troostwijk, L. J. A. E., van Essen, P., Hofsteenge, A. H., Koot, B. G., Müller, A. R., Tseng, L. A., Stroes, E. S. G., van de Ven, P. M., Wiegman, A. & van Karnebeek, C. D. M., May 2024, In: Molecular genetics and metabolism. 142, 1, p. 108347 108347.Research output: Contribution to journal › Article › Academic › peer-review
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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., Ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G. & van Eeghen, A. M., 1 Dec 2024, In: BMC psychiatry. 24, 1, p. 23 23.Research output: Contribution to journal › Article › Academic › peer-review
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Case report: Skin protective barrier cream interference in benzethonium chloride method for urine protein measurement in a 6-month-old girl
Bosch, A. M., Özcan, Ö., van Wijk, J. A., den Elzen, W. P., Heijboer, A. C. & Fischer, J. C., 26 Nov 2024, In: Annals of clinical biochemistry. p. 45632231218833Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Classical galactosemia: Cognitive, psychosocial and prognostic challenges
Hermans, M. E., 2024, 247 p.Research output: PhD Thesis › Phd-Thesis - Research and graduation internal
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Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review
den Hollander, B., le, H. L., Swart, E. L., Bikker, H., Hollak, C. E. M. & Brands, M. M., 1 Sept 2024, In: Molecular genetics and metabolism. 143, 1-2, 108556.Research output: Contribution to journal › Article › Academic › peer-review
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Clinical practice recommendations on lipoprotein apheresis for children with homozygous familial hypercholesterolaemia: An expert consensus statement from ERKNet and ESPN
Reijman, M. D., Kusters, D. M., Groothoff, J. W., Arbeiter, K., Dann, E. J., de Boer, L. M., de Ferranti, S. D., Gallo, A., Greber-Platzer, S., Hartz, J., Hudgins, L. C., Ibarretxe, D., Kayikcioglu, M., Klingel, R., Kolovou, G. D., Oh, J., Planken, R. N., Stefanutti, C., Taylan, C. & Wiegman, A. & 1 others, , 1 May 2024, In: Atherosclerosis. 392, 117525.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access -
Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development
van der Sluijs, P. J., Pour, K. S., Berends, C. C. L., Kruizinga, M. D., Müller, A. R., van Eeghen, A. M., Rodríguez-Girondo, M., Juachon, M. J., Steenbeek, D., Cohen, A. F., Zuiker, R. G. J. A. & Santen, G. W. E., 2024, (E-pub ahead of print) In: Journal of medical genetics. jmg-2024-109951.Research output: Contribution to journal › Article › Academic › peer-review
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Corrigendum to “Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233] (Contemporary Clinical Trials Communications (2023) 36, (S2451865423001795), (10.1016/j.conctc.2023.101233))
Hollander, B. D., Rothuizen-Lindenschot, M., Geertjens, L., Vaz, F. M., Brands, M. M., le, H. L., van Eeghen, A. M., van de Ven, P. M., Cornel, M. C., Jacobs, B. A. W., Bruining, H. & van Karnebeek, C. D., Apr 2024, In: Contemporary Clinical Trials Communications. 38, p. 101264 101264.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open Access -
CTCA in children with severe heterozygous familial hypercholesterolaemia: Screening for subclinical atherosclerosis
Reijman, M. D., van den Bosch, S. E., Kusters, D. M., Corpeleijn, W. E., Hutten, B. A., Kuipers, I. M., Planken, R. N. & Wiegman, A., 1 Mar 2024, In: Atherosclerosis Plus. 55, p. 1-4 4 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Current and emerging monoclonal antibodies for treating familial hypercholesterolemia in children
Reijman, M. D., Kusters, D. M. & Wiegman, A., 2024, In: Expert opinion on biological therapy. 24, 4, p. 243-249 7 p.Research output: Contribution to journal › Review article › Academic › peer-review
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Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey
Corazolla, E. M., Eskes, E. C. B., Veldwijk, J., Brands, M. M. M. G., Dekker, H., van de Mheen, E., Langeveld, M., Hollak, C. E. M. & Sjouke, B., 1 Dec 2024, In: Orphanet journal of rare diseases. 19, 1, 367.Research output: Contribution to journal › Article › Academic › peer-review
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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
Müller, A. R., Boot, E., Notermans, S. B., Schuengel, C., Henneman, L., Cornel, M. C., van Haelst, M. M., Alders, M., van Karnebeek, C. D. M., Bijl, B., Wijburg, F. A. & van Eeghen, A. M., 1 Dec 2024, In: Orphanet journal of rare diseases. 19, 1, 346.Research output: Contribution to journal › Article › Academic › peer-review
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Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?
Fuchs, C., ‘t Hoen, P. A. C., Müller, A. R., Ehrhart, F. & van Karnebeek, C. D. M., 2024, In: Frontiers in medicine. 11, 1425038.Research output: Contribution to journal › Article › Academic › peer-review
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Dyslipidaemia as a target for atherosclerotic cardiovascular disease prevention in children with type 1 diabetes: lessons learned from familial hypercholesterolaemia
Corpeleijn, W. E., de Waal, W. J., Schipper, H. S. & Wiegman, A., 1 Jan 2024, In: Diabetologia. 67, 1, p. 19-26 8 p.Research output: Contribution to journal › Review article › Academic › peer-review
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Effect of an exercise intervention or combined exercise and diet intervention on health-related quality of life-physical functioning after kidney transplantation: the Active Care after Transplantation (ACT) multicentre randomised controlled trial
Knobbe, T. J., Kremer, D., Zelle, D. M., Klaassen, G., Dijkema, D., van Vliet, I. M. Y., Leurs, P. B., Bemelman, F. J., Christiaans, M. H. L., Berger, S. P., Navis, G., Bakker, S. J. L. & Corpeleijn, E., 1 Sept 2024, In: The Lancet Healthy Longevity. 5, 9, 100622.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Grünert, S. C., Gautschi, M., Baker, J., Boyer, M., Burlina, A., Casswall, T., Corpeleijn, W., Çıki, K., Cotter, M., Crushell, E., Derks, T. G. J., Haas, D., Kilavuz, S., Kingma, S. D. K., Korman, S. H., Kozek, A., de Laet, C., Mundy, H., Nassogne, M. C. & Quintero, V. & 8 others, , 1 Jun 2024, In: Molecular genetics and metabolism. 142, 2, 108486.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia
Wiegman, A., Greber-Platzer, S., Ali, S., Reijman, M. D., Brinton, E. A., Charng, M.-J., Srinivasan, S., Baker-Smith, C., Baum, S., Brothers, J. A., Hartz, J., Moriarty, P. M., Mendell, J., Bihorel, S. B., Banerjee, P., George, R. T., Hirshberg, B. & Pordy, R., 30 Jan 2024, In: Circulation. 149, 5, p. 343-353 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay
Balfoort, B. M., Pampalone, G., Ruiter, J. P. N., Denis, S. W., Brands, M. M., Timmer, C. & GACR Bird's Eye View Consortium, 1 Sept 2024, In: Molecular genetics and metabolism. 143, 1-2, 108542.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Familial hypercholesterolemia care by Dutch pediatricians-mind the gaps
van den Bosch, S. E., Hutten, B. A., Ibrahim, S., Wiegman, A., Pang, J., Watts, G. F. & Corpeleijn, W. E., Sept 2024, In: European journal of pediatrics. 183, 9, p. 3877-3883 7 p.Research output: Contribution to journal › Article › Academic › peer-review
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Familial hypercholesterolemia in children and the importance of early treatment
van den Bosch, S. E., Hutten, B. A., Corpeleijn, W. E. & Kusters, D. M., 1 Jun 2024, In: Current opinion in lipidology. 35, 3, p. 126-132 7 p.Research output: Contribution to journal › Review article › Academic › peer-review
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Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
Schoenmakers, D. H., van den Berg, S., Timmers, L., Adang, L. A., Bäumer, T., Bosch, A., van de Casteele, M., Datema, M. R., Dekker, H., Donnelly, C., Driessens, M. H. E., Graessner, H., Greger, V., Haddad, T., Höglinger, G. N. U., van den Hout, H., Jonker, C., Langeveld, M., Lambert, L. J. & Neacy, E. & 12 others, , 22 Aug 2024, In: Neurology. 103, 6Research output: Contribution to journal › Article › Academic › peer-review
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Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
Derks, B., Kumar, V. S., Yadnik, S., Panis, B., Bosch, A. M., Cassiman, D., Janssen, M. C. H., Schuhmann, T., Rubio-Gozalbo, M. E. & Jansma, B. M., Jul 2024, In: Journal of inherited metabolic disease. 47, 4, p. 703-715 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients
Hermans, M. E., Geurtsen, G. J., Hollak, C. E. M. & Bosch, A. M., 1 Mar 2024, In: JIMD reports. 65, 2, p. 110-115 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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New insights in managing homozygous and severe heterozygous familial hypercholesterolaemia in children
Reijman, M. D., 2024, 327 p.Research output: PhD Thesis › Phd-Thesis - Research and graduation internal
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Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations
Brands, M. M. M. G., Suijker, M. H. & Kuijpers, T. W., 2024, In: Blood advances.Research output: Contribution to journal › Article › Academic
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Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations
Del Castillo, J., Tool, A. T. J., van Leeuwen, K., van Alphen, F. P. J., Brands, M. M., Suijker, M. H., Meijer, A. B., Hoogendijk, A. J. & Kuijpers, T. W., 28 May 2024, In: Blood advances. 8, 10, p. 2466-2477 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study
Jaeger, B., Hoytema van Konijnenburg, E., Groenveld, M. A., Langeveld, M., Wolf, N. I. & Bosch, A. M., 1 Dec 2024, In: Orphanet journal of rare diseases. 19, 1, 410.Research output: Contribution to journal › Article › Academic › peer-review
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Riboflavin transporter deficiency in young adults unmasked by dietary changes
Jaeger, B., Langeveld, M., Brunkhorst, R., Distelmaier, F., Pop, A., Wolf, N. I. & Bosch, A. M., 1 Jul 2024, In: JIMD reports. 65, 4, p. 233-238 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Posset, R., Garbade, S. F., Gleich, F., Scharre, S., Okun, J. R. G., Gropman, A. L., Nagamani, S. C. S., Druck, A.-C., Epp, F., Hoffmann, G. F., Kölker, S., Zielonka, M., Mew, N. A., Seminara, J., Burrage, L. C., Berry, G. T., Breilyn, M., Schulze, A., Harding, C. O. & Berry, S. A. & 39 others, , 1 Apr 2024, In: Genetics in medicine. 26, 4, 101039.Research output: Contribution to journal › Article › Academic › peer-review
Open Access