Publications

In submission/in press

Cox TM. Biomarkers for osteonecrosis in Gaucher disease. Exp Opin Med Diag, submitted.

de Vries J, Brugma J-C, Özkan L, Steegers E, Reuser A, van Doorn P, van der Ploeg A. First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Neurology, submitted.

Kroos M, Hoogeveen M, Pomponio R, Halley D, Reuser A, and the GAA Database Consortium. Update of the Pompe Disease Mutation Database with functional effects of 22 previously known and 46 new Sequence Variants in GAA. Hum Mutat, submitted.

Medina DL, Fraldi A, Bouché V, Annunziata F, Mansueto G, Spampanato C, Puri C, Pignata A, Martina JA, Sardiello M, Polishchuk R, Puertollano R, Ballabio A. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell, in press.

Oussoren E, Brands M, Ruijter G, van der Ploeg A, Reuser A. Bones, joints and teeth development in Mucopolysaccharidoses: Relevance to therapeutic options. Biochem Biophys Acta, in press.

van der Beek N, van Capelle C, van der Velden–van Etten K, Hop W, van den Berg B, van Doorn P, van der Ploeg A, Stam H. Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab, in press.

van Gelder C, van Capelle C, Ebbink B, Moor I, van den Hout J, Hakkesteegt M, van Doorn P, de Coo I, Reuser A, de Gier H, van der Ploeg A. Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis, submitted.


2011

Andria, G (2011). Understanding and Treatment of Rare Metabolic Disorders. Projects: 72-73.

Cotugno G, Annunziata P, Tessitore A, O’Malley T, Capalbo A, Faella A, Bartolomeo R, O’Donnell P, Wang P, Russo F, Sleeper MM, Knox VW, Fernandez S, Levanduski L, Hopwood J, De Leonibus E, Haskins M, Auricchio A (2011). Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer. Mol Ther 19: 461-469.

Cotugno G, Aurilio M, Annunziata P, Capalbo A, Faella A, Rinaldi V, Strisciuglio C, Di Tommaso M, Aloj L, Auricchio A (2011). Noninvasive repetitive imaging of Somatostatin Receptor 2 gene transfer with positron emission tomography. Hum Gene Ther 22: 189-196.

Deegan PB, Pavlova E, Tindall J, Stein PE, Bearcroft P, Mehta A, Hughes D, Wraith JE, Cox TM (2011). Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine 90: 52-60.

El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS (2011). Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab May 5. [Epub ahead of print].

Gungor D, de Vries J, Hop W, Reuser A, van Doorn P, van der Ploeg A, Hagemans M (2011). Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis 6: 34.

Kanters TA, Hagemans ML, van der Beek NA, Rutten FF, van der Ploeg AT, Hakkaart L (2011). Burden of illness of Pompe disease in patients only receiving supportive care. J Inherit Metab Dis Apr 16. [Epub ahead of print].

Oemardien LF, Boer AM, Ruijter GJ, van der Ploeg AT, de Klerk JB, Reuser AJ, Verheijen FW (2011). Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots. Mol Genet Metab 102: 44-48.

Pavlova EV, Deegan PB, Tindall J, McFarlane I, Mehta A, Hughes D, Wraith JE, Cox TM (2011). Potential biomarkers of osteonecrosis in Gaucher disease. Blood Cells Mol Dis 46: 27-33.

Settembre C, Di Malta C, Polito VA, Arencibia MG, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A (2011). TFEB Links Autophagy to Lysosomal Biogenesis. Science 332: 1429-1433.

Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos M, Verheijen F, Reuser A, Okumiya T (2011). Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots. Mol Genet Metab 103: 12-17.

Slingerland N, Polling J, van Gelder C, van der Ploeg, A (2011). Ptosis, extra ocular motility disorder, and myopia as features of Pompe disease. Orbit 30: 111-113.

Spampanato C, De Leonibus E, Dama P, Gargiulo A, Fraldi A, Sorrentino NC, Russo F, Nusco E, Auricchio A, Surace EM, Ballabio A (2011). Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. Mol Ther 19: 860-869.

van den Berg L,de Vries J, van der Beek N, van Doorn P, Reuser A, van der Ploeg A (2011). A case of adult-onset Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers. Neuromuscul Disord 21: 232-234.

van den Berg L, Zandbergen A, van Capelle C, de Vries J, Hop W, van den Hout J, Reuser A, Zillikens M, van der Ploeg A (2011). Reply to the letter to the editor by Papadimas et al.: “Bone mineral density in adult patients with Pompe disease”. Bone 48: 418-419.


2010

Beck, M, Muenzer, J, Scarpa, M (2010). Evaluation of disease severity in mucopolysaccharidosis. J Ped Rehab Med 3: 39-46.

Bruce CK, Smith M, Rahman F, Liu ZF, McMullan DJ, Ball S, Hartley J, Kroos MA, Heptinstall L, Reuser AJ, Rolfs A, Hendriksz C, Kelly DA, Barrett TG, MacDonald F, Maher ER, Gissen P (2010). Design and validation of a metabolic disorder resequencing microarray (BRUM1). Hum Mutat 31: 858-865.

Burton B, Guffon N, Roberts J, van der Ploeg A, Jones S; HOS investigators (2010). Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II – data from the Hunter Outcome Survey. Mol Genet Metab 101: 123-129.

Champion H, Ramaswami U, Imrie J, Lachmann RH, Gallagher J, Cox TM, Wraith JE (2010). Dietary modifications in patients receiving miglustat. J Inherit Metab Dis Sep 16. [Epub ahead of print].

Cotugno G, Tessitore A, Capalbo A, Annunziata P, Striscuglio C, Faella A, Aurilio M, Di Tommaso M, Russo F, Mancini A, De Leonibus E, Aloj L, Auricchio A (2010). Different serum enzyme levels are required for the rescue of the various systemic features in Mucopolysaccharidoses. Hum Gene Ther 21: 555-569.

Cox TM (2010). Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Curr Opin Investig Drugs 11: 1169-1181.

Cox TM (2010). Gaucher disease: clinical profile and therapeutic developments. Biologics 4: 299-313.

de Vries J, Hagemans M, Bussmann J, van der Ploeg A, van Doorn P (2010). Fatigue in neuromuscular disorders: focus on Guillain-Barré syndrome and Pompe disease. Cell Mol Life Sci 67: 701-713.

de Vries J, Kroos M, Özkan L, van Doorn P, van der Ploeg A, Reuser A (2010). High antibody titer in an adult with Pompe disease affects treatment with alglucoisidase alfa. Mol Genet Metab 101: 338-345.

Hagemans M, Brands M, van Capelle C, Mulder M, Helbing W, Arts W, van der Ploeg A (2010). Mucopolysaccharidose type II en type VI: de ziekten van Hunter en van Maroteaux-Lamy. Tijdschr Kindergeneeskd 78: 62-69.

Hagemans M, Stigter R, van Capelle C, van der Beek N, Winkel L, van Vliet L, Hop W, Reuser A, van der Ploeg A (2010). PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. J Inherit Met Dis 33: 133-139.

Kroos M, Reuser A (2010). The Pompe Disease Mutation Database at www.pompecenter.nl Last update, December 2, 2010.

Reuser A, Verheijen F, Kroos M, Okumiya T, van Diggelen O, van der Ploeg A, Halley DJJ (2010). Enzymatic and molecular strategies to diagnose Pompe disease. Exp Opin Med Diag 4: 79-89.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B (2010). Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 257: 91-97.

van Capelle C, Goedegebure A, Homans N, Hoeve H, Reuser A, van der Ploeg A (2010). Hearing loss in Pompe disease revisited: results from a study of 24 children. J Inherit Metab Dis 33: 597-602.

van Capelle C, van der Beek N, Hagemans M, Arts W, Hop W, Lee P, Jaeken J, Frohn-Mulder I, Merkus P, Corzo D, Puga A, Reuser A, van der Ploeg A (2010). Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study. Neuromuscul Disord 20: 775-782.

van den Berg L, Zandbergen A, van Capelle C, de Vries J, Hop W, Reuser A, Zillikens M, van der Ploeg A (2010). Low bone mass in Pompe disease; muscular strength as a predictor of bone mineral density. Bone 47: 643-649.

van der Ploeg A (2010). Where do we stand in enzyme replacement therapy in Pompe’s disease? Neuromuscul Disord 20: 773-774.

van der Ploeg A, Clemens P, Corzo D, Escolar D, Florence J, Groeneveld G, Herson S, Kishnani P, Laforet P, Lake S, Lange D, Leshner R, Mayhew J, Morgan C, Nozaki K, Park D, Pestronk A, Rosenbloom B, Skrinar A, van Capelle C, van der Beek N, Wasserstein M, Zivkovic S (2010). A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362: 1396-1406.

van Til NP, Stok M, Aerts Kaya FS, de Waard MC, Farahbakhshian E, Visser TP, Kroos MA, Jacobs EH, Willart MA, van der Wegen P, Scholte BJ, Lambrecht BN, Duncker DJ, van der Ploeg AT, Reuser AJ, Verstegen MM, Wagemaker G (2010). Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype. Blood 115: 5329-5337.

Vitner EB, Dekel H, Zigdon H, Shachar T, Farfel-Becker T, Eilam R, Karlsson S, Futerman AH (2010). Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses. Hum Mol Genet 19: 3583-3590.


2009

Beck M (2009). Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease. Ther Clin Risk Manag 5: 767-772.

Berglin-Enquist I, Nilsson E, Lo Bianco C, MÃ¥nsson J-E, Ehinger, Brady RO, M, Richter J, Karlsson S (2009). Development of novel therapies in murine models for Gaucher disease. Clin Ther 31: Suppl C.

Berglin-Enquist I, Nilsson E, MÃ¥nsson J-E, Ehinger M, Richter J, Karlsson S (2009). Successful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher disease. Stem Cells 27: 744-752.

Farfel-Becker T, Vitner E, Dekel H, Leshem L, Enquist IB, Karlsson S, Futerman AH (2009). No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease. Hum Mol Genet 18: 1482-1488.

Flanagan JJ, Rossi B, Tang K, Wu X, Mascioli K, Donaudy F, Tuzzi MR, Fontana F, Cubellis MV, Porto C, Benjamin E, Lockhart DJ, Valenzano KJ, Andria G, Parenti G, Do HV (2009). The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat 30: 1683-1692.

Kumamoto S, Katafuchi T, Nakamura K, Endo F, Oda E, Okuyama T, Kroos MA, Reuser AJJ, Okumiya T (2009). High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese Population. Mol Genet Metab 97: 190-195.

Parenti G (2009). Treating lysosomal storage diseases with pharmacological chaperones. From concept to clinics. EMBO Mol Med 1: 268-279.

Pitz S, Ogun O, Arash L, Miebach E, Beck M (2009). Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis? Graefes Arch Clin Exp Ophthalmol 247: 975-980.

Porto C, Cardone M, Fontana F, Rossi B, Tuzzi MR, Tarallo A, Barone MV, Andria G, Parenti G (2009). The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther 17: 964-971.

Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A (2009). A gene network regulating lysosomal biogenesis and function. Science 325: 473-477.

Schandler M, Beck M (2009). Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI. Curr Med Res Opin 25: 1285-1293.

Tessitore A, Pirozzi M, Auricchio A (2009). Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. Pathogenetics 2: 4.

van der Beek NAME, Hagemans MLC, Reuser AJJ, Hop WC, van der Ploeg AT, Van Doorn PA, Wokke JH (2009). Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord 19: 113-117.

van Diggelen OP, Oemardien LF, van der Beek NAME, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ (2009). Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates. J Inherit Metab Dis 32: 416-423.


2008

Cardone M, Porto C, Tarallo A, Vicinanza M, Rossi B, Polishchuk E, Donaudy F, Andria G, De Matteis MA, Parenti G (2008). Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. Pathogenetics 1: 6.

Soliman OI, van der Beek NAME, van Doorn PA, Vletter WB, Nemes A, Van Dalen BM, ten Cate FJ, van der Ploeg AT, Geleijnse ML (2008). Cardiac involvement in adults with Pompe disease. J Intern Med 264: 333-339.

van der Beek NAME, Soliman OII, van Capelle CI, Geleijnse ML, Vletter WB, Kroos MA, Reuser AJ, Frohn-Mulder IM, van Doorn PA, van der Ploeg AT (2008). Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T > G genotype rarely reveals abnormalities. J Neurol Sci 275: 46-50.

van der Ploeg AT, Reuser AJJ (2008). Pompe’s disease. Lancet 372: 1342-1353.