C I van Capelle
Overview
Explore the profile of C I van Capelle including associated specialties, affiliations and a list of published articles.
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8
Citations
199
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0
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Recent Articles
1.
Scheffers L, Kok R, van den Berg L, van den Hout J, Boersma E, van Capelle C, et al.
Int J Cardiol
. 2023 Mar;
380:65-71.
PMID: 36893858
Objective: Patients with classic infantile Pompe disease are born with a hypertrophic cardiomyopathy, which resolves after treatment with Enzyme replacement therapy (ERT). We aimed to assess potential deterioration of cardiac...
2.
van Capelle C, van der Meijden J, van den Hout J, Jaeken J, Baethmann M, Voit T, et al.
Orphanet J Rare Dis
. 2016 May;
11(1):65.
PMID: 27189384
Background: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger...
3.
van Gelder C, van Capelle C, Ebbink B, Moor-van Nugteren I, van den Hout J, Hakkesteegt M, et al.
J Inherit Metab Dis
. 2011 Oct;
35(3):505-11.
PMID: 22008944
Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement...
4.
van der Beek N, van Capelle C, van der Velden-van Etten K, Hop W, van Den Berg B, Reuser A, et al.
Mol Genet Metab
. 2011 Jul;
104(1-2):129-36.
PMID: 21763167
Respiratory insufficiency is a serious threat to patients with Pompe disease, a neuromuscular disorder caused by lysosomal acid alpha-glucosidase deficiency. Innovative therapeutic options which may stabilize pulmonary function have recently...
5.
van Capelle C, van der Beek N, Hagemans M, Arts W, Hop W, Lee P, et al.
Neuromuscul Disord
. 2010 Sep;
20(12):775-82.
PMID: 20817528
Pompe disease is a rare neuromuscular disorder caused by deficiency of acid α-glucosidase. Treatment with recombinant human α-glucosidase recently received marketing approval based on prolonged survival of affected infants. The...
6.
van der Beek N, Soliman O, van Capelle C, Geleijnse M, Vletter W, Kroos M, et al.
J Neurol Sci
. 2008 Sep;
275(1-2):46-50.
PMID: 18757064
Background And Objective: Pompe disease is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase. All affected neonates have a severe hypertrophic cardiomyopathy, leading to cardiac failure and death...
7.
van Capelle C, Winkel L, Hagemans M, Shapira S, Arts W, van Doorn P, et al.
Neuromuscul Disord
. 2008 May;
18(6):447-52.
PMID: 18508267
Pompe disease (type 2 glycogenosis, acid maltase deficiency) is a disorder affecting skeletal and cardiac muscle, caused by deficiency of acid alpha-glucosidase. In 2006 enzyme therapy with recombinant human alpha-glucosidase...
8.
van Capelle C, Hogeman P, van der Sijs-Bos C, Heggelman B, Idowu B, Slootweg P, et al.
Eur J Pediatr
. 2006 Nov;
166(9):905-9.
PMID: 17120035
We report on a child who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and cherubism. With genetic testing, we found a mutation in the NF-1 gene, confirming the...