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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2005 2
2006 1
2008 2
2009 2
2010 5
2011 3
2012 8
2013 10
2014 7
2015 8
2016 7
2017 5
2018 12
2019 9
2020 16
2021 15
2022 18
2023 8
2024 3

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112 results

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Page 1
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. Among authors: janssen mch. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
Tumoral calcinosis.
Janssen MC, de Sévaux RG. Janssen MC, et al. J Inherit Metab Dis. 2010 Feb;33(1):91-2. doi: 10.1007/s10545-009-9019-4. Epub 2010 Jan 5. J Inherit Metab Dis. 2010. PMID: 20049529 Free PMC article. No abstract available.
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Coughlin CR, et al. Among authors: janssen mch. Neurology. 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. Neurology. 2022. PMID: 36008148 Free PMC article.
LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. Among authors: janssen mch. Neurol Genet. 2023 Jul 19;9(5):e200089. doi: 10.1212/NXG.0000000000200089. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37476021 Free PMC article.
Increased prevalence of Parkinson's disease in alkaptonuria.
Ranganath L, Khedr M, Milan AM, Davison AS, Norman BP, Janssen MCH, Lock E, Bou-Gharios G, Gallagher JA. Ranganath L, et al. Among authors: janssen mch. JIMD Rep. 2023 May 11;64(4):282-292. doi: 10.1002/jmd2.12367. eCollection 2023 Jul. JIMD Rep. 2023. PMID: 37404676 Free PMC article.
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E. Veys K, et al. Among authors: janssen mch. J Inherit Metab Dis. 2023 Jan;46(1):43-54. doi: 10.1002/jimd.12562. Epub 2022 Oct 6. J Inherit Metab Dis. 2023. PMID: 36117148
Higher SBP in female patients with mitochondrial disease.
Viering DHHM, van Borselen MD, Deinum J, Bindels RJM, de Baaij JHF, Janssen MCH. Viering DHHM, et al. Among authors: janssen mch. J Hypertens. 2022 May 1;40(5):940-946. doi: 10.1097/HJH.0000000000003095. Epub 2022 Feb 7. J Hypertens. 2022. PMID: 35132040
112 results