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195 results

Public support for neonatal screening for Pompe disease, a broad-phenotype condition.

Weinreich SS, Rigter T, van El CG, Dondorp WJ, Kostense PJ, van der Ploeg AT, Reuser AJ, Cornel MC, Hagemans ML

Orphanet journal of rare diseases, 2012 Mar 14

doi: 10.1186/1750-1172-7-15

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.

van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doorn PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT

Journal of inherited metabolic disease, 2012 May

doi: 10.1007/s10545-011-9404-7

Hearing in adults with Pompe disease.

van der Beek NA, Verschuure H, Reuser AJ, van der Ploeg AT, van Doorn PA, Poublon RM

Journal of inherited metabolic disease, 2012 Mar

doi: 10.1007/s10545-011-9396-3

First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease.

de Vries JM, Brugma JD, Ozkan L, Steegers EA, Reuser AJ, van Doorn PA, van der Ploeg AT

Molecular genetics and metabolism, 2011 Dec

doi: 10.1016/j.ymgme.2011.09.012

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, Case LE

Molecular genetics and metabolism, 2011 Dec

doi: 10.1016/j.ymgme.2011.08.011

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients.

van Capelle CI, van der Beek NA, de Vries JM, van Doorn PA, Duivenvoorden HJ, Leshner RT, Hagemans ML, van der Ploeg AT

Journal of inherited metabolic disease, 2012 Mar

doi: 10.1007/s10545-011-9388-3

Gingival overgrowth in Pompe disease: a case report.

de Gijt JP, van Capelle CI, Oosterhuis JW, van der Ploeg AT, van der Wal KG

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons, 2011 Aug

doi: 10.1016/j.joms.2011.03.070

Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.

van der Beek NA, van Capelle CI, van der Velden-van Etten KI, Hop WC, van den Berg B, Reuser AJ, van Doorn PA, van der Ploeg AT, Stam H

Molecular genetics and metabolism

doi: 10.1016/j.ymgme.2011.06.012

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.

Güngör D, de Vries JM, Hop WC, Reuser AJ, van Doorn PA, van der Ploeg AT, Hagemans ML

Orphanet journal of rare diseases, 2011 Jun 01

doi: 10.1186/1750-1172-6-34

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.

Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK,

Genetics in medicine : official journal of the American College of Medical Genetics, 2011 Jul

doi: 10.1097/GIM.0b013e3182142966

Burden of illness of Pompe disease in patients only receiving supportive care.

Kanters TA, Hagemans ML, van der Beek NA, Rutten FF, van der Ploeg AT, Hakkaart L

Journal of inherited metabolic disease, 2011 Oct

doi: 10.1007/s10545-011-9320-x

Ptosis, extraocular motility disorder, and myopia as features of pompe disease.

Slingerland NW, Polling JR, van Gelder CM, van der Ploeg AT, Bleyen I

Orbit (Amsterdam, Netherlands), 2011 Mar

doi: 10.3109/01676830.2010.546932