Frohn-Mulder IME - Search Results

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: frohn mulder ime. 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.

2

Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.

van Velzen HG, Schinkel AFL, Baart SJ, Oldenburg RA, Frohn-Mulder IME, van Slegtenhorst MA, Michels M. van Velzen HG, et al. Among authors: frohn mulder ime. Circ Genom Precis Med. 2018 Apr;11(4):e001896. doi: 10.1161/CIRCGEN.117.001896. Circ Genom Precis Med. 2018. PMID: 29661763

3

Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Verhagen JMA, van den Born M, Kurul S, Asimaki A, van de Laar IMBH, Frohn-Mulder IME, Kammeraad JAE, Yap SC, Bartelings MM, van Slegtenhorst MA, von der Thüsen JH, Wessels MW. Verhagen JMA, et al. Among authors: frohn mulder ime. Circ Genom Precis Med. 2018 Dec;11(12):e002397. doi: 10.1161/CIRCGEN.118.002397. Circ Genom Precis Med. 2018. PMID: 30562116 No abstract available.

4

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. 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.

5

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation.

van Velzen HG, Schinkel AFL, Oldenburg RA, van Slegtenhorst MA, Frohn-Mulder IME, van der Velden J, Michels M. van Velzen HG, et al. Among authors: frohn mulder ime. Circ Cardiovasc Genet. 2017 Aug;10(4):e001660. doi: 10.1161/CIRCGENETICS.116.001660. Circ Cardiovasc Genet. 2017. PMID: 28794111

6

The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF. Hoedemaekers YM, et al. Circ Cardiovasc Genet. 2010 Jun;3(3):232-9. doi: 10.1161/CIRCGENETICS.109.903898. Epub 2010 Jun 8. Circ Cardiovasc Genet. 2010. PMID: 20530761

7

Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI.

Brands MM, Frohn-Mulder IM, Hagemans ML, Hop WC, Oussoren E, Helbing WA, van der Ploeg AT. Brands MM, et al. J Inherit Metab Dis. 2013 Mar;36(2):227-34. doi: 10.1007/s10545-011-9444-z. Epub 2012 Jan 26. J Inherit Metab Dis. 2013. PMID: 22278137 Free PMC article.

8

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

van Capelle CI, Poelman E, Frohn-Mulder IM, Koopman LP, van den Hout JMP, Régal L, Cools B, Helbing WA, van der Ploeg AT. van Capelle CI, et al. Int J Cardiol. 2018 Oct 15;269:104-110. doi: 10.1016/j.ijcard.2018.07.091. Epub 2018 Jul 19. Int J Cardiol. 2018. PMID: 30049495 Free article.

9

Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.

van Capelle CI, van der Beek NA, Hagemans ML, Arts WF, Hop WC, Lee P, Jaeken J, Frohn-Mulder IM, Merkus PJ, Corzo D, Puga AC, Reuser AJ, van der Ploeg AT. van Capelle CI, et al. Neuromuscul Disord. 2010 Dec;20(12):775-82. doi: 10.1016/j.nmd.2010.07.277. Neuromuscul Disord. 2010. PMID: 20817528 Clinical Trial.

10

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van den Wijngaard A, de Krijger RR, Michels M, de Coo IF, Hoedemaekers YM, Dooijes D. Wessels MW, et al. Eur J Hum Genet. 2015 Jul;23(7):922-8. doi: 10.1038/ejhg.2014.211. Epub 2014 Oct 22. Eur J Hum Genet. 2015. PMID: 25335496 Free PMC article.

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