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Page 1
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome.
Molema F, Haijes HA, Janssen MC, Bosch AM, van Spronsen FJ, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Fuchs S, Langendonk JG, Rizopoulos D, van Hasselt PM, Williams M. Molema F, et al. Among authors: janssen mc. Clin Nutr. 2021 May;40(5):3622-3630. doi: 10.1016/j.clnu.2020.12.027. Epub 2020 Dec 25. Clin Nutr. 2021. PMID: 33451859 Free article.
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
Anjema K, Venema G, Hofstede FC, Carbasius Weber EC, Bosch AM, Ter Horst NM, Hollak CE, Jonkers CF, Rubio-Gozalbo ME, van der Ploeg EM, de Vries MC, Janssen-Regelink RG, Janssen MC, Zweers-van Essen H, Boelen CC, van der Herberg-van de Wetering NA, Heiner-Fokkema MR, van Rijn M, van Spronsen FJ. Anjema K, et al. Among authors: janssen mc, janssen regelink rg. Mol Genet Metab. 2011;104 Suppl:S60-3. doi: 10.1016/j.ymgme.2011.09.024. Epub 2011 Sep 23. Mol Genet Metab. 2011. PMID: 21996137
Dysarthria and dysphagia in patients with mitochondrial diseases.
Kuin REM, Groothuis JT, Buit P, Janssen MCH, Knuijt S. Kuin REM, et al. Among authors: janssen mch. Mol Genet Metab. 2024 Jul;142(3):108510. doi: 10.1016/j.ymgme.2024.108510. Epub 2024 Jun 1. Mol Genet Metab. 2024. PMID: 38843620 Free article.
Ketogenic diet in adult patients with mitochondrial myopathy.
Zweers HEE, Kroesen SH, Beerlink G, Buit E, Gerrits K, Dorhout A, van Wegberg AMJ, Janssen MCH, Wortmann SB, Timmers S, Saris CGJ. Zweers HEE, et al. Among authors: janssen mch. Mol Genet Metab. 2024 Nov 10;143(4):108610. doi: 10.1016/j.ymgme.2024.108610. Online ahead of print. Mol Genet Metab. 2024. PMID: 39602868
Vaccine safety in children with genetically confirmed mitochondrial disease.
de Vreugd A, Zimmermann FA, Steinbrücker K, de Vries MC, de Boer L, Janssen MC, Huemer M, Wortmann SB. de Vreugd A, et al. Among authors: janssen mc. Immunol Lett. 2024 Nov 17;271:106946. doi: 10.1016/j.imlet.2024.106946. Online ahead of print. Immunol Lett. 2024. PMID: 39557131
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
Smeitink J, van Es J, Bosman B, Janssen MCH, Klopstock T, Gorman G, Vissing J, Ruiterkamp G, Edgar CJ, Abbink EJ, van Maanen R, Pogoryelova O, Stendel C, Bischoff A, Karin I, Munshi M, Kümmel A, Burgert L, Verhaak C, Renkema H. Smeitink J, et al. Among authors: janssen mch. Brain. 2024 Nov 6:awae277. doi: 10.1093/brain/awae277. Online ahead of print. Brain. 2024. PMID: 39501914
Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain response.
van de Wal MAE, Doornbos C, Bibbe JM, Homberg JR, van Karnebeek C, Huynen MA, Keijer J, van Schothorst EM, 't Hoen PAC, Janssen MCH, Adjobo-Hermans MJW, Wieckowski MR, Koopman WJH. van de Wal MAE, et al. Among authors: janssen mch. Biochim Biophys Acta Proteins Proteom. 2024 Oct 11;1873(1):141055. doi: 10.1016/j.bbapap.2024.141055. Online ahead of print. Biochim Biophys Acta Proteins Proteom. 2024. PMID: 39395749 Free article.
206 results