Research output per year
Research output per year
Personal profile
Expertises
Neuropediatrics; Rare Diseases; Neurometabolic Diseases; Leukoencephalopathies; Genetic Diseases
Main research areas
Neurometabolic Diseases; Leukoencephalopathies; Peroxisomal Diseases
Current research
see above
Potential conflicts of interest
none
Fingerprint
Dive into the research topics where Sabine Grønborg is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
Schoenmakers, D. H., Mochel, F., Adang, L. A., Boelens, J.-J., Calbi, V., Eklund, E. A., Grønborg, S. W., Fumagalli, F., Groeschel, S., Lindemans, C., Sevin, C., Schöls, L., Ram, D., Zerem, A., Graessner, H. & Wolf, N. I., 7 Feb 2024, In: Orphanet Journal of Rare Diseases. 19, 1, p. 46 46.Research output: Contribution to journal › Journal article › Research › peer-review
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Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
Laugwitz, L., Schoenmakers, D. H., Adang, L. A., Beck-Woedl, S., Bergner, C., Bernard, G., Bley, A., Boyer, A., Calbi, V., Dekker, H., Eichler, F., Eklund, E., Fumagalli, F., Gavazzi, F., Grønborg, S. W., van Hasselt, P., Langeveld, M., Lindemans, C., Mochel, F. & Oberg, A. & 8 others, , 9 Mar 2024, In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 49, p. 141-154 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Peluso, F., Caraffi, S. G., Contrò, G., Valeri, L., Napoli, M., Carboni, G., Seth, A., Zuntini, R., Coccia, E., Astrea, G., Bisgaard, A.-M., Ivanovski, I., Maitz, S., Brischoux-Boucher, E., Carter, M. T., Dentici, M. L., Devriendt, K., Bellini, M., Digilio, M. C. & Doja, A. & 45 others, , 27 Nov 2023, In: Journal of Medical Genetics. 60, 12, p. 1224-1234 11 p., jmg-2023-109141.Research output: Contribution to journal › Review › peer-review
5 Citations (Scopus) -
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
Amarasekera, S. S. C., Hock, D. H., Lake, N. J., Calvo, S. E., Grønborg, S. W., Krzesinski, E. I., Amor, D. J., Fahey, M. C., Simons, C., Wibrand, F., Mootha, V. K., Lek, M., Lunke, S., Stark, Z., Østergaard, E., Christodoulou, J., Thorburn, D. R., Stroud, D. A. & Compton, A. G., 20 Jul 2023, In: Human Molecular Genetics. 32, 15, p. 2441-2454 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
8 Citations (Scopus) -
Newborn screening for adrenoleukodystrophy: International experiences and challenges
Videbæk, C., Melgaard, L., Lund, A. M. & Grønborg, S. W., 2023, In: Molecular Genetics and Metabolism. 140, 4, 7 p., 107734.Research output: Contribution to journal › Review › peer-review