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248 results

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Page 1
No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo-controlled cross-over study.
Løkken N, Storgaard JH, Revsbech KL, Voermans NC, Van Hall G, Vissing J, Ørngreen MC. Løkken N, et al. Among authors: voermans nc. J Inherit Metab Dis. 2022 May;45(3):502-516. doi: 10.1002/jimd.12484. Epub 2022 Feb 20. J Inherit Metab Dis. 2022. PMID: 35150142 Free PMC article. Clinical Trial.
MRI in sarcoglycanopathies: a large international cohort study.
Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. Tasca G, et al. Among authors: voermans nc. J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9. J Neurol Neurosurg Psychiatry. 2018. PMID: 28889091
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.
Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MØrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ. Abu Bakar N, et al. Among authors: voermans nc. Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10. Transl Res. 2018. PMID: 30048639 Free PMC article.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S. Bachmann C, et al. Among authors: voermans nc. Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1. Hum Mutat. 2019. PMID: 30932294 Free PMC article.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Voermans NC, Kouwenberg CV, Laforêt P, San-Millán B, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Stemmerik MG, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, Vissing J; EUROMAC Consortium. Scalco RS, et al. Among authors: voermans nc. Orphanet J Rare Dis. 2020 Nov 24;15(1):330. doi: 10.1186/s13023-020-01562-x. Orphanet J Rare Dis. 2020. PMID: 33234167 Free PMC article.
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.
Lucia A, Martinuzzi A, Nogales-Gadea G, Quinlivan R, Reason S; International Association for Muscle Glycogen Storage Disease study group. Lucia A, et al. Neuromuscul Disord. 2021 Dec;31(12):1296-1310. doi: 10.1016/j.nmd.2021.10.006. Epub 2021 Oct 28. Neuromuscul Disord. 2021. PMID: 34848128 Free article. No abstract available.
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial.
Storgaard JH, Løkken N, Madsen KL, Voermans NC, Laforêt P, Nadaj-Pakleza A, Tard C, van Hall G, Vissing J, Ørngreen MC. Storgaard JH, et al. Among authors: voermans nc. J Inherit Metab Dis. 2022 May;45(3):517-528. doi: 10.1002/jimd.12479. Epub 2022 Feb 4. J Inherit Metab Dis. 2022. PMID: 35066899 Clinical Trial.
248 results