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Page 1
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.
JIMD Rep. 2022 Mar 1;63(3):193-198. doi: 10.1002/jmd2.12276. eCollection 2022 May.
JIMD Rep. 2022.
PMID: 35433169
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: mathisen p.
Nutrients. 2019 Oct 25;11(11):2572. doi: 10.3390/nu11112572.
Nutrients. 2019.
PMID: 31731404
Free PMC article.
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The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.
Sigurdardottir S, Bjerkely B, Jenssen TG, Mathisen P, von der Lippe C, Ørstavik K, Heimdal K, Dahle DO, Weedon-Fekjær MS, Solberg O, Pihlstrøm HK.
Sigurdardottir S, et al. Among authors: mathisen p.
Orphanet J Rare Dis. 2021 Oct 12;16(1):427. doi: 10.1186/s13023-021-02066-y.
Orphanet J Rare Dis. 2021.
PMID: 34641933
Free PMC article.
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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: mathisen p.
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.
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Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.
Pihlstrøm HK, Weedon-Fekjær MS, Bjerkely BL, von der Lippe C, Ørstavik K, Mathisen P, Heimdal K, Jenssen TG, Dahle DO, Solberg OK, Sigurdardottir S.
Pihlstrøm HK, et al. Among authors: mathisen p.
JIMD Rep. 2021 Jul 16;62(1):56-69. doi: 10.1002/jmd2.12240. eCollection 2021 Nov.
JIMD Rep. 2021.
PMID: 34765399
Free PMC article.
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The effect of aortic valve replacement on N-terminal natriuretic propeptides in patients with aortic stenosis.
Qi W, Mathisen P, Kjekshus J, Simonsen S, Endresen K, Bjørnerheim R, Hall C.
Qi W, et al. Among authors: mathisen p.
Clin Cardiol. 2002 Apr;25(4):174-80. doi: 10.1002/clc.4960250408.
Clin Cardiol. 2002.
PMID: 12000075
Free PMC article.
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The Wedensky test predicts malignant ventricular arrhythmias after myocardial infarction.
Amlie JP, Hoium H, Mathisen P, Malik M, Brady PA.
Amlie JP, et al. Among authors: mathisen p.
Scand Cardiovasc J. 2013 Oct;47(5):256-62. doi: 10.3109/14017431.2013.831117.
Scand Cardiovasc J. 2013.
PMID: 24050376
Free PMC article.
Clinical Trial.
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