GENERAL
Hirschhorn R, Reuser AJJ. Glycogen Storage Disease Type II: Acid alpha-Glucosidase (Acid Maltase) Deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D. eds. The Metabolic & Molecular Bases of Inherited Disease. New York, McGraw-Hill 2001; 3389-3420.

CLINICAL
Winkel LP, Hagemans ML,van Doorn PA. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol. 2005; 252(8):875-884.

Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005; 128:671-7.

Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA, Van der Ploeg AT. Late-onset Pompe disease primarily affects quality of life in physical health domains Neurology. 2004; 63(9):1688-1692.

Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005; 64(12):2139-41.

Pellegrini N, Laforet P, Orlikowski D, Pellegrini M, Caillaud C, Eymard B, Raphael JC, Lofaso F. Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J. 2005; 26(6):1024-1031.

Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004; 144: S35-43.

Haley SM, Fragala MA, Skrinar AM. Pompe disease and physical disability.
Dev Med Child Neurol. 2003; 45(9):6186-23.

Marsden D. Infantile onset Pompe disease: A report of physician narratives from an epidemiologic study. Genet Med. 2005; (2):147-50.

BIOCHEMISTRY/PATHOPHYSIOLOGY
Lynch CM, Johnson J, Vaccaro C, Thurberg BL.High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology. J Histochem Cytochem. 2005; 53(1):63-73.

Rozaklis T, Ramsay SL, Whitfield PD, Ranieri E, Hopwood JJ, Meikle PJ Determination of oligosaccharides in Pompe disease by electrospray ionization tandem mass spectrometry. Clin Chem. 2002; 48(1):131-139.

An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, CorzoD, Chen YT. Glucose tetrasaccharide as biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab. 2005; 5(4):247-254.

TREATMENT
Winkel LP, VandenHout JM,Kamphoven JH,et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol. 2004; 55(4):495-502.

Klinge L, Straub V, Neudorf U, Voit T. Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study. Neuropediatrics. 2005; 36(1):6-11.

Xu F, Ding E, Liao SX, Migone F, Dai J, Schneider A, Serra D, Chen YT, Amalfitano A. Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model. Gene Ther. 2004; 11(21):1590-1598.

Mellies U, Stehling F, Dohna-Schwake C, Ragette R, Teschler H, Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology. 2005; 64(8):1465-1467.

Van der Ploeg A. Monitoring of pulmonary function in Pompe disease: a muscle disease with new therapeutic perspectives. Eur Respir J. 2005; 26(6):984-985.

Reuser AJ, Van Den Hout H, Bijvoet AG, Kroos MA, Verbeet MP, Van Der Ploeg AT. Enzyme therapy for Pompe disease: from science to industrial enterprise.
Eur J Pediatr. 2002; 161:S106-11.