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The ketogenic diet as a therapeutic intervention strategy in mitochondrial disease.
Qu C, Keijer J, Adjobo-Hermans MJW, van de Wal M, Schirris T, van Karnebeek C, Pan Y, Koopman WJH. Qu C, et al. Among authors: van karnebeek c, van de wal m. Int J Biochem Cell Biol. 2021 Sep;138:106050. doi: 10.1016/j.biocel.2021.106050. Epub 2021 Jul 21. Int J Biochem Cell Biol. 2021. PMID: 34298163 Free article. Review.
Cognitive functioning and mental health in mitochondrial disease: A systematic scoping review.
Klein IL, van de Loo KFE, Smeitink JAM, Janssen MCH, Kessels RPC, van Karnebeek CD, van der Veer E, Custers JAE, Verhaak CM. Klein IL, et al. Among authors: van karnebeek cd, van de loo kfe, van der veer e. Neurosci Biobehav Rev. 2021 Jun;125:57-77. doi: 10.1016/j.neubiorev.2021.02.004. Epub 2021 Feb 11. Neurosci Biobehav Rev. 2021. PMID: 33582231 Free article. Review.
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Balfoort BM, Buijs MJN, Ten Asbroek ALMA, Bergen AAB, Boon CJF, Ferreira EA, Houtkooper RH, Wagenmakers MAEM, Wanders RJA, Waterham HR, Timmer C, van Karnebeek CD, Brands MM. Balfoort BM, et al. Among authors: van karnebeek cd. Mol Genet Metab. 2021 Sep-Oct;134(1-2):96-116. doi: 10.1016/j.ymgme.2021.07.010. Epub 2021 Jul 26. Mol Genet Metab. 2021. PMID: 34340878 Free article. Review.
Personalized medicine for rare neurogenetic disorders: can we make it happen?
van Eeghen AM, Bruining H, Wolf NI, Bergen AA, Houtkooper RH, van Haelst MM, van Karnebeek CD. van Eeghen AM, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006200. doi: 10.1101/mcs.a006200. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35332073 Free PMC article.
A call for global action for rare diseases in Africa.
Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin CP, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan EJA, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JKV, Beltran S, Kosaki K, van Karnebeek CDM, Gong M, Shuyang Z, Mehrian-Shai R, Adams DR, Puri RD, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott KM, Posada M. Baynam GS, et al. Among authors: van der westhuizen fh, van karnebeek cdm. Nat Genet. 2020 Jan;52(1):21-26. doi: 10.1038/s41588-019-0552-2. Nat Genet. 2020. PMID: 31873296 No abstract available.
Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: van karnebeek cd, van wegberg amj, van spronsen fj. Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Orphanet J Rare Dis. 2018. PMID: 30157945 Free PMC article.
Rare diseases: human genome research is coming home.
Ropers HH, van Karnebeek CD. Ropers HH, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006210. doi: 10.1101/mcs.a006210. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35332074 Free PMC article.
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Casas K, Didycz B, Djordjevic M, Hertecant JL, Leuzzi V, Mathisen P, Nardecchia F, Powell KK, Rutsch F, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: van karnebeek cd, van wegberg amj, van spronsen fj. Nutrients. 2019 Oct 25;11(11):2572. doi: 10.3390/nu11112572. Nutrients. 2019. PMID: 31731404 Free PMC article.
249 results