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Items: 1 to 50 of 187

1.

Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria.

van Kooten HA, Harlaar L, van der Beek NAME, van Doorn PA, van der Ploeg AT, Brusse E; Erasmus MC Pompe expert committee.

Neuromuscul Disord. 2019 Nov 22. pii: S0960-8966(19)31205-2. doi: 10.1016/j.nmd.2019.11.007. [Epub ahead of print]

2.

Sharpening the Molecular Scissors: Advances in Gene-Editing Technology.

Broeders M, Herrero-Hernandez P, Ernst MPT, van der Ploeg AT, Pijnappel WWMP.

iScience. 2019 Dec 19;23(1):100789. doi: 10.1016/j.isci.2019.100789. [Epub ahead of print] Review.

3.

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM.

J Inherit Metab Dis. 2019 Dec 11. doi: 10.1002/jimd.12193. [Epub ahead of print]

PMID:
31828787
4.

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME.

Neurology. 2019 Nov 5;93(19):e1756-e1767. doi: 10.1212/WNL.0000000000008441. Epub 2019 Oct 16.

PMID:
31619483
5.

Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease.

Schaaf GJ, Canibano-Fraile R, van Gestel TJM, van der Ploeg AT, Pijnappel WWMP.

Ann Transl Med. 2019 Jul;7(13):280. doi: 10.21037/atm.2019.04.48. Review.

6.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites.

Hum Mutat. 2019 Nov;40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7.

7.

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Niño MY, In 't Groen SLM, Bergsma AJ, van der Beek NAME, Kroos M, Hoogeveen-Westerveld M, van der Ploeg AT, Pijnappel WWMP.

Hum Mutat. 2019 Nov;40(11):1954-1967. doi: 10.1002/humu.23854. Epub 2019 Jul 29.

8.

A genetic modifier of symptom onset in Pompe disease.

Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP.

EBioMedicine. 2019 May;43:553-561. doi: 10.1016/j.ebiom.2019.03.048. Epub 2019 Mar 25.

9.

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.

Circ Genom Precis Med. 2019 Mar;12(3):e002395. doi: 10.1161/CIRCGEN.118.002395. No abstract available.

PMID:
30919683
10.

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers.

Poelman E, Hoogeveen-Westerveld M, van den Hout JMP, Bredius RGM, Lankester AC, Driessen GJA, Kamphuis SSM, Pijnappel WWM, van der Ploeg AT.

Orphanet J Rare Dis. 2019 Mar 22;14(1):71. doi: 10.1186/s13023-019-1039-z.

11.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S.

Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13.

PMID:
30882951
12.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M; Additional individual contributors from E-IMD.

Mol Genet Metab. 2019 Apr;126(4):397-405. doi: 10.1016/j.ymgme.2019.02.003. Epub 2019 Feb 25.

PMID:
30827756
13.

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group.

Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17.

14.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ.

Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8.

15.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M; Additional individual contributors from E-IMD.

J Inherit Metab Dis. 2019 Nov;42(6):1162-1175. doi: 10.1002/jimd.12066. Epub 2019 Feb 27.

PMID:
30734935
16.

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.

Kuperus E, van der Meijden JC, In 't Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP.

PLoS One. 2018 Dec 7;13(12):e0208854. doi: 10.1371/journal.pone.0208854. eCollection 2018.

17.

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

Schaaf GJ, van Gestel TJM, In 't Groen SLM, de Jong B, Boomaars B, Tarallo A, Cardone M, Parenti G, van der Ploeg AT, Pijnappel WWMP.

Acta Neuropathol Commun. 2018 Nov 7;6(1):119. doi: 10.1186/s40478-018-0620-3.

18.

Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease.

Favejee MM, van der Meijden JC, Kruijshaar ME, Rizopoulos D, van der Ploeg AT, Bussmann JBJ.

Phys Ther. 2018 Nov 1;98(11):925-931. doi: 10.1093/ptj/pzy090.

19.

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.

J Inherit Metab Dis. 2018 Nov;41(6):1247-1258. doi: 10.1007/s10545-018-0212-1. Epub 2018 Aug 6.

20.

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.

Int J Cardiol. 2018 Oct 15;269:104-110. doi: 10.1016/j.ijcard.2018.07.091. Epub 2018 Jul 19.

21.

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study.

Huijbregts SCJ, Bosch AM, Simons QA, Jahja R, Brouwers MCGJ, De Sonneville LMJ, De Vries MC, Hofstede FC, Hollak CEM, Janssen MCH, Langendonk JG, Rubio-Gozalbo ME, Van der Meere JJ, Van der Ploeg AT, Van Spronsen FJ.

Mol Genet Metab. 2018 Sep;125(1-2):96-103. doi: 10.1016/j.ymgme.2018.07.002. Epub 2018 Jul 7.

PMID:
30007854
22.

microRNAs as biomarkers in Pompe disease.

Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G.

Genet Med. 2019 Mar;21(3):591-600. doi: 10.1038/s41436-018-0103-8. Epub 2018 Jul 12.

PMID:
29997386
23.

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.

van der Meijden JC, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Beek NAME, van der Ploeg AT.

Orphanet J Rare Dis. 2018 May 22;13(1):82. doi: 10.1186/s13023-018-0824-4.

24.

Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies.

van der Wal E, Herrero-Hernandez P, Wan R, Broeders M, In 't Groen SLM, van Gestel TJM, van IJcken WFJ, Cheung TH, van der Ploeg AT, Schaaf GJ, Pijnappel WWMP.

Stem Cell Reports. 2018 Jun 5;10(6):1975-1990. doi: 10.1016/j.stemcr.2018.04.002. Epub 2018 May 3.

25.

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.

J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27.

26.

Perioperative management of children with glycogen storage disease type II-Pompe disease.

Bosman L, Hoeks SE, González Candel A, van den Hout HJM, van der Ploeg AT, Staals LM.

Paediatr Anaesth. 2018 May;28(5):428-435. doi: 10.1111/pan.13361. Epub 2018 Mar 25.

PMID:
29575534
27.

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Ebbink BJ, Poelman E, Aarsen FK, Plug I, Régal L, Muentjes C, van der Beek NAME, Lequin MH, van der Ploeg AT, van den Hout JMP.

Dev Med Child Neurol. 2018 Jun;60(6):579-586. doi: 10.1111/dmcn.13740. Epub 2018 Mar 24.

28.

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.

van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT.

J Inherit Metab Dis. 2018 Nov;41(6):1205-1214. doi: 10.1007/s10545-018-0166-3. Epub 2018 Mar 19.

29.

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.

Poelman E, Hoogeveen-Westerveld M, Kroos-de Haan MA, van den Hout JMP, Bronsema KJ, van de Merbel NC, van der Ploeg AT, Pijnappel WWMP.

J Pediatr. 2018 Apr;195:236-243.e3. doi: 10.1016/j.jpeds.2017.11.046. Epub 2018 Feb 7.

30.

Imaging of respiratory muscles in neuromuscular disease: A review.

Harlaar L, Ciet P, van der Ploeg AT, Brusse E, van der Beek NAME, Wielopolski PA, de Bruijne M, Tiddens HAWM, van Doorn PA.

Neuromuscul Disord. 2018 Mar;28(3):246-256. doi: 10.1016/j.nmd.2017.11.010. Epub 2017 Nov 24. Review.

PMID:
29398294
31.

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options.

Bergsma AJ, van der Wal E, Broeders M, van der Ploeg AT, Pim Pijnappel WWM.

Int Rev Cell Mol Biol. 2018;335:85-141. doi: 10.1016/bs.ircmb.2017.07.008. Epub 2017 Sep 12. Review.

PMID:
29305015
32.

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease.

Kanters TA, van der Ploeg AT, Kruijshaar ME, Rizopoulos D, Redekop WK, Rutten-van Mӧlken MPMH, Hakkaart-van Roijen L.

Orphanet J Rare Dis. 2017 Dec 13;12(1):179. doi: 10.1186/s13023-017-0731-0.

33.

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study.

Kuperus E, Kruijshaar ME, Wens SCA, de Vries JM, Favejee MM, van der Meijden JC, Rizopoulos D, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME.

Neurology. 2017 Dec 5;89(23):2365-2373. doi: 10.1212/WNL.0000000000004711. Epub 2017 Nov 8.

PMID:
29117951
34.

The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy.

van der Ploeg AT.

N Engl J Med. 2017 Nov 2;377(18):1786-1787. doi: 10.1056/NEJMe1712106. No abstract available.

PMID:
29091554
35.

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.

Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ.

Behav Genet. 2017 Sep;47(5):486-497. doi: 10.1007/s10519-017-9863-1. Epub 2017 Aug 3.

36.

Response to Herbert et al.

de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SCA, Stok M, van der Beek NAME, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WWMP.

Genet Med. 2017 Nov;19(11):1283-1284. doi: 10.1038/gim.2017.49. Epub 2017 Jun 29. No abstract available.

PMID:
28661488
37.

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease.

van der Wal E, Bergsma AJ, Pijnenburg JM, van der Ploeg AT, Pijnappel WWMP.

Mol Ther Nucleic Acids. 2017 Jun 16;7:90-100. doi: 10.1016/j.omtn.2017.03.001. Epub 2017 Mar 14.

38.

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.

van der Wal E, Bergsma AJ, van Gestel TJM, In 't Groen SLM, Zaehres H, Araúzo-Bravo MJ, Schöler HR, van der Ploeg AT, Pijnappel WWMP.

Mol Ther Nucleic Acids. 2017 Jun 16;7:101-115. doi: 10.1016/j.omtn.2017.03.002. Epub 2017 Mar 14.

39.

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

Oussoren E, Bessems JHJM, Pollet V, van der Meijden JC, van der Giessen LJ, Plug I, Devos AS, Ruijter GJG, van der Ploeg AT, Langeveld M.

Mol Genet Metab. 2017 Jul;121(3):241-251. doi: 10.1016/j.ymgme.2017.05.008. Epub 2017 May 19.

PMID:
28552677
40.

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP.

Dev Med Child Neurol. 2017 Oct;59(10):1063-1070. doi: 10.1111/dmcn.13467. Epub 2017 May 25.

41.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium.

Eur J Neurol. 2017 Jun;24(6):768-e31. doi: 10.1111/ene.13285. Epub 2017 May 6. Review.

PMID:
28477382
42.

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

Jahja R, Huijbregts SCJ, de Sonneville LMJ, van der Meere JJ, Legemaat AM, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, van Spronsen FJ.

Neuropsychology. 2017 May;31(4):437-447. doi: 10.1037/neu0000358. Epub 2017 Mar 20.

PMID:
28318283
43.

Commentary.

Pijnappel WW, van Doorn PA, van der Ploeg AT.

Clin Chem. 2017 Jan;63(1):48. doi: 10.1373/clinchem.2016.265280. No abstract available.

44.

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.

Bergsma AJ, In 't Groen SL, Verheijen FW, van der Ploeg AT, Pijnappel WWMP.

Mol Ther Nucleic Acids. 2016 Sep 13;5(9):e361. doi: 10.1038/mtna.2016.75. Erratum in: Mol Ther Nucleic Acids. 2016 Nov 29;5(11):e391.

45.

Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI.

Mogalle K, Perez-Rovira A, Ciet P, Wens SC, van Doorn PA, Tiddens HA, van der Ploeg AT, de Bruijne M.

PLoS One. 2016 Jul 8;11(7):e0158912. doi: 10.1371/journal.pone.0158912. eCollection 2016.

46.

Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases.

Johnston BC, Miller PA, Agarwal A, Mulla S, Khokhar R, De Oliveira K, Hitchcock CL, Sadeghirad B, Mohiuddin M, Sekercioglu N, Seweryn M, Koperny M, Bala MM, Adams-Webber T, Granados A, Hamed A, Crawford MW, van der Ploeg AT, Guyatt GH.

J Clin Epidemiol. 2016 Nov;79:10-21. doi: 10.1016/j.jclinepi.2016.06.010. Epub 2016 Jul 2. Review.

PMID:
27381737
47.

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SC, Stok M, van der Beek NA, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WW.

Genet Med. 2017 Jan;19(1):90-97. doi: 10.1038/gim.2016.70. Epub 2016 Jun 30.

PMID:
27362911
48.

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M.

Eur J Hum Genet. 2016 Oct;24(10):1424-9. doi: 10.1038/ejhg.2016.65. Epub 2016 Jun 22.

49.

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany.

Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European POmpe Consortium (EPOC).

Acta Myol. 2015 Dec;34(2-3):141-3. No abstract available.

50.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT.

Orphanet J Rare Dis. 2016 May 18;11(1):65. doi: 10.1186/s13023-016-0442-y.

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