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201 results

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Page 1
Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.
Demirdas S, van Slegtenhorst MA, Verdijk RM, Lee M, van den Hout HMP, Wessels MW, Frohn-Mulder IME, Gardeitchik T, van der Ploeg AT, Schaaf GJ. Demirdas S, et al. Among authors: verdijk rm. Circ Genom Precis Med. 2019 Mar;12(3):e002395. doi: 10.1161/CIRCGEN.118.002395. Circ Genom Precis Med. 2019. PMID: 30919683 No abstract available.
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM. Almomani R, et al. Among authors: verdijk rm. J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093. J Am Coll Cardiol. 2016. PMID: 26846950 Free article.
Mucolipidosis type III, a series of adult patients.
Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M. Oussoren E, et al. J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27. J Inherit Metab Dis. 2018. PMID: 29704188 Free PMC article.
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Oussoren E, Mathijssen IMJ, Wagenmakers M, Verdijk RM, Bredero-Boelhouwer HH, van Veelen-Vincent MC, van der Meijden JC, van den Hout JMP, Ruijter GJG, van der Ploeg AT, Langeveld M. Oussoren E, et al. Among authors: verdijk rm. J Inherit Metab Dis. 2018 Nov;41(6):1247-1258. doi: 10.1007/s10545-018-0212-1. Epub 2018 Aug 6. J Inherit Metab Dis. 2018. PMID: 30083803 Free PMC article.
Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.
Verhagen JMA, van den Born M, van der Linde HC, G J Nikkels P, Verdijk RM, Kivlen MH, van Unen LMA, Baas AF, Ter Heide H, van Osch-Gevers L, Hoogeveen-Westerveld M, Herkert JC, Bertoli-Avella AM, van Slegtenhorst MA, Wessels MW, Verheijen FW, Hassel D, Hofstra RMW, Hegde RS, van Hasselt PM, van Ham TJ, van de Laar IMBH. Verhagen JMA, et al. Among authors: verdijk rm. Circ Genom Precis Med. 2019 Sep;12(9):397-406. doi: 10.1161/CIRCGEN.119.002507. Epub 2019 Aug 28. Circ Genom Precis Med. 2019. PMID: 31461301 Free PMC article.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Vandervore LV, Schot R, Milanese C, Smits DJ, Kasteleijn E, Fry AE, Pilz DT, Brock S, Börklü-Yücel E, Post M, Bahi-Buisson N, Sánchez-Soler MJ, van Slegtenhorst M, Keren B, Afenjar A, Coury SA, Tan WH, Oegema R, de Vries LS, Fawcett KA, Nikkels PGJ, Bertoli-Avella A, Al Hashem A, Alwabel AA, Tlili-Graiess K, Efthymiou S, Zafar F, Rana N, Bibi F, Houlden H, Maroofian R, Person RE, Crunk A, Savatt JM, Turner L, Doosti M, Karimiani EG, Saadi NW, Akhondian J, Lequin MH, Kayserili H, van der Spek PJ, Jansen AC, Kros JM, Verdijk RM, Milošević NJ, Fornerod M, Mastroberardino PG, Mancini GMS. Vandervore LV, et al. Among authors: verdijk rm. Am J Hum Genet. 2019 Dec 5;105(6):1126-1147. doi: 10.1016/j.ajhg.2019.10.009. Epub 2019 Nov 14. Am J Hum Genet. 2019. PMID: 31735293 Free PMC article.
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
Canibano-Fraile R, Harlaar L, Dos Santos CA, Hoogeveen-Westerveld M, Demmers JAA, Snijders T, Lijnzaad P, Verdijk RM, van der Beek NAME, van Doorn PA, van der Ploeg AT, Brusse E, Pijnappel WWMP, Schaaf GJ. Canibano-Fraile R, et al. Among authors: verdijk rm. J Inherit Metab Dis. 2023 Jan;46(1):101-115. doi: 10.1002/jimd.12560. Epub 2022 Oct 17. J Inherit Metab Dis. 2023. PMID: 36111639 Free PMC article.
Right atrial and ventricular angiosarcoma.
Segers D, Galuzina J, Verdijk RM, Manintveld OC. Segers D, et al. Among authors: verdijk rm. Eur Heart J. 2013 Nov;34(43):3361. doi: 10.1093/eurheartj/eht416. Epub 2013 Oct 3. Eur Heart J. 2013. PMID: 24096329 No abstract available.
201 results