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	1.	How to describe the clinical spectrum in Pompe disease? [electronic resource] by Güngör, Deniz Reuser, Arnold J J Producer: 20130701 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles. [electronic resource] by Reuser, Arnold J J Drost, Maarten R Producer: 20061027 In: Acta paediatrica (Oslo, Norway : 1992). Supplement vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Pompe's disease. [electronic resource] by van der Ploeg, Ans T Reuser, Arnold J J Producer: 20081105 In: Lancet (London, England) vol. 372 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. [electronic resource] by Seppälä, Eija H Reuser, Arnold J J Lohi, Hannes Producer: 20130828 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A case presenting with delayed motor milestones. [electronic resource] by Muntoni, Francesco Zafeiriou, Dimitrios I Jimenez, Cecilia Reuser, Arnold Sewry, Caroline Producer: 20060207 In: Neuromuscular disorders : NMD vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	The genotype-phenotype correlation in Pompe disease. [electronic resource] by Kroos, Marian Hoogeveen-Westerveld, Marianne van der Ploeg, Ans Reuser, Arnold J J Producer: 20120724 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 160C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	L-alanine supplementation in late infantile glycogen storage disease type II. [electronic resource] by Bodamer, Olaf A Haas, Dorothea Hermans, Monique M Reuser, Arnold J Hoffmann, Georg F Producer: 20021112 In: Pediatric neurology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. [electronic resource] by Kroos, Marian Hoogeveen-Westerveld, Marianne Michelakakis, Helen Pomponio, Robert Van der Ploeg, Ans Halley, Dicky Reuser, Arnold Producer: 20121128 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). [electronic resource] by Brands, Marion Roelants, Jorine de Krijger, Ronald Bogers, Ad Reuser, Arnold van der Ploeg, Ans Helbing, Wim Producer: 20140515 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Treatment options for lysosomal storage disorders: developing insights. [electronic resource] by van Gelder, Carin M Vollebregt, Audrey A M Plug, Iris van der Ploeg, Ans T Reuser, Arnold J J Producer: 20130305 In: Expert opinion on pharmacotherapy vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease. [electronic resource] by Sugawara, Kanako Saito, Seiji Sekijima, Masakazu Ohno, Kazuki Tajima, Youichi Kroos, Marian A Reuser, Arnold J J Sakuraba, Hitoshi Producer: 20091215 In: Journal of human genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. [electronic resource] by Okumiya, Toshika Kroos, Marian A Vliet, Laura Van Takeuchi, Hiroaki Van der Ploeg, Ans T Reuser, Arnold J J Producer: 20071206 In: Molecular genetics and metabolism vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease. [electronic resource] by van Gelder, Carin M Hoogeveen-Westerveld, Marianne Kroos, Marian A Plug, Iris van der Ploeg, Ans T Reuser, Arnold J J Producer: 20160303 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Newborn screening for pompe disease? a qualitative study exploring professional views. [electronic resource] by van El, Carla G Rigter, Tessel Reuser, Arnold J J van der Ploeg, Ans T Weinreich, Stephanie S Cornel, Martina C Producer: 20150417 In: BMC pediatrics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. [electronic resource] by Kroos, Marian Pomponio, Robert J van Vliet, Laura Palmer, Rachel E Phipps, Michael Van der Helm, Robert Halley, Dicky Reuser, Arnold Producer: 20080715 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. [electronic resource] by Kumamoto, Shingo Katafuchi, Tatsuya Nakamura, Kimitoshi Endo, Fumio Oda, Eri Okuyama, Torayuki Kroos, Marian A Reuser, Arnold J J Okumiya, Toshika Producer: 20090812 In: Molecular genetics and metabolism vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Hearing loss in Pompe disease revisited: results from a study of 24 children. [electronic resource] by van Capelle, Carine I Goedegebure, Andre Homans, Nienke C Hoeve, Hans L J Reuser, Arnold J van der Ploeg, Ans T Producer: 20110128 In: Journal of inherited metabolic disease vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease). [electronic resource] by Lichtenbelt, Klaske D Sinke, Richard J Ausems, Margreet G E M Kroos, Marian A Reuser, Arnold J J Wokke, John J H Producer: 20060705 In: Experimental and molecular pathology vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Enzyme therapy for Pompe disease: from science to industrial enterprise. [electronic resource] by Reuser, Arnold J J Van Den Hout, Hannerieke Bijvoet, Agnes G A Kroos, Marian A Verbeet, Martin P Van Der Ploeg, Ans T Producer: 20030221 In: European journal of pediatrics vol. 161 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. [electronic resource] by Kroos, Marian A Kirschner, Janbernd Gellerich, Frank N Hermans, Monique M P Van Der Ploeg, Ans T Reuser, Arnold J J Korinthenberg, Rudolf Producer: 20040720 In: Neuromuscular disorders : NMD vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 62 results.