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Type II Glycogen Storage Disease (Pompe Disease) Workup

  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
Updated: Oct 15, 2014

Laboratory Studies

Obtain a creatine kinase in all cases of suspected GSD. Creatine kinase is elevated in Pompe disease.

Because hypoglycemia may be found in some types of GSD, fasting glucose is indicated. Because the liver phosphorylase is not involved (only muscle phosphorylase), hypoglycemia is not an expected finding.

Urine studies are indicated because myoglobinuria may occur in some GSDs.

Hepatic failure occurs in some GSDs. Liver function studies are indicated.

Biochemical assay is required for definitive diagnosis. Assay reveals deficient acid maltase in fibroblasts.


Imaging Studies

Aneurysms, which represent glycogen storage within the intracranial vasculature, may be found on angiography or magnetic resonance angiography.

Consider echocardiography to assess heart size and amount of left ventricular hypertrophy.


Other Tests

Ischemic forearm test

  • The ischemic forearm test is an important tool for diagnosis of muscle disorders. The basic premise is an analysis of the normal chemical reactions and products of muscle activity. Obtain consent before the test.
  • Instruct the patient to rest. Position a loosened blood pressure cuff on the arm, and place a venous line for blood samples in the antecubital vein.
  • Obtain blood samples for the following tests: creatine kinase, ammonia, and lactate. Repeat in 5-10 minutes.
  • Obtain a urine sample for myoglobin analysis.
  • Immediately inflate the blood pressure cuff above systolic blood pressure and have the patient repetitively grasp an object, such as a dynamometer. Instruct the patient to grasp the object firmly, once or twice per second. Encourage the patient for 2-3 minutes, at which time the patient may no longer be able to participate. Immediately release and remove the blood pressure cuff.
  • Obtain blood samples for creatine kinase, ammonia, and lactate immediately and at 5, 10, and 20 minutes.
  • Collect a final urine sample for myoglobin analysis.

Interpretation of ischemic forearm test results

  • With exercise, carbohydrate metabolic pathways yield lactate from pyruvate. Lack of lactate production during exercise is evidence of pathway disturbance, and an enzyme deficiency is suggested. In such cases, muscle biopsy with biochemical assay is indicated.
  • Healthy patients demonstrate an increase in lactate of at least 5-10 mg/dL and ammonia of at least 100 mcg/dL. Levels return to baseline.
  • If neither level increases, the exercise was not strenuous enough and the test result is not valid.
  • Increased lactate at rest (before exercise) is evidence of mitochondrial myopathy.
  • Failure of lactate to increase with ammonia is evidence of a GSD resulting in a block in carbohydrate metabolic pathways. Not all GSDs have a positive ischemic test result.
  • Failure of ammonia to increase with lactate is evidence of myoadenylate deaminase deficiency.
  • Findings on the ischemic forearm test are normal in Pompe disease.


  • In 1998, Aminoff reported electromyelographic findings suggestive of a myopathy, although abnormal spontaneous activity may be present.[9]
  • Electrical myotonia without clinical myotonia may be present.
  • Myotonic discharges may be found in the paraspinal muscles.
  • Fibrillation potentials, positive sharp waves, and complex repetitive discharges may be found.
  • Myopathic findings of polyphasic responses, decreased duration of potentials, and decreased amplitude are usually present.

Electrocardiography: ECG demonstrates a pan-lead short PR interval and elevated QRS complexes in the infantile form. A case of Wolff-Parkinson-White syndrome has been reported in association with Pompe disease.



Muscle biopsy assists with the evaluation of muscle weakness.


Histologic Findings

Muscle biopsy shows vacuolar myopathy. Type I fibers are most often involved. Lysosomal glycogen accumulates are predominant, although the cytoplasm may be involved. Periodic acid-Schiff stain is positive for inclusions.

Contributor Information and Disclosures

Wayne E Anderson, DO, FAHS, FAAN Assistant Professor of Internal Medicine/Neurology, College of Osteopathic Medicine of the Pacific Western University of Health Sciences; Clinical Faculty in Family Medicine, Touro University College of Osteopathic Medicine; Clinical Instructor, Departments of Neurology and Pain Management, California Pacific Medical Center

Wayne E Anderson, DO, FAHS, FAAN is a member of the following medical societies: California Medical Association, American Headache Society, San Francisco Medical Society, San Francisco Medical Society, International Headache Society, California Neurology Society, San Francisco Neurological Society, American Academy of Neurology, California Medical Association

Disclosure: Received honoraria from Teva for speaking and teaching; Received grant/research funds from Allergan for other; Received honoraria from Insys for speaking and teaching; Received honoraria from DepoMed for speaking and teaching.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kent Wehmeier, MD Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine

Kent Wehmeier, MD is a member of the following medical societies: American Society of Hypertension, Endocrine Society, International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, International Society for Clinical Densitometry, Southern Society for Clinical Investigation, American College of Medical Practice Executives, American Association for Physician Leadership, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society

Disclosure: Nothing to disclose.


Barry J Goldstein, MD, PhD Director, Division of Endocrinology, Diabetes and Metabolic Diseases, Professor, Department of Internal Medicine, Thomas Jefferson University

Barry J Goldstein, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, and The Endocrine Society

Disclosure: Nothing to disclose.

  1. Jeffrey S. FDA Expands Approval of Pompe Disease Drug. Available at Accessed: August 9, 2014.

  2. Lukacs Z, Nieves Cobos P, Mengel E, et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis. 2009 Dec 23. [Medline].

  3. Kishnani PS, Beckemeyer AA, Mendelsohn NJ. The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Am J Med Genet C Semin Med Genet. 2012 Feb 15. 160(1):1-7. [Medline].

  4. Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, et al. A cross-sectional single-centre study on Pompe disease in 42 German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis. 2012 Jun 7. 7(1):35. [Medline].

  5. Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. 1999 Nov. 189(3):416-24. [Medline].

  6. Gort L, Coll MJ, Chabas A. Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G>C mutation. Mol Genet Metab. 2007 Sep-Oct. 92(1-2):183-7. [Medline].

  7. Martiniuk F, Chen A, Mack A. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. 1998 Aug 27. 79(1):69-72. [Medline].

  8. Jones HN, Muller CW, Lin M, et al. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2009 Sep 10. [Medline].

  9. Aminoff MJ. Electromyography in Clinical Practice. New York, NY: Churchill Livingstone; 1998.

  10. Zingone A, Hiraiwa H, Pan CJ. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem. 2000 Jan 14. 275(2):828-32. [Medline].

  11. Taglia A, Picillo E, D'Ambrosio P, Cecio MR, Viggiano E, Politano L. Genetic counseling in Pompe disease. Acta Myol. 2011 Dec. 30(3):179-81. [Medline]. [Full Text].

  12. Strothotte S, Strigl-Pill N, Grunert B, et al. 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. 2010 Jan. 257(1):91-7. [Medline].

  13. Phupong V, Shotelersuk V. Prenatal exclusion of Pompe disease by electron microscopy. Southeast Asian J Trop Med Public Health. 2006 Sep. 37(5):1021-4. [Medline].

  14. Chien YH, Lee NC, Thurberg BL, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009 Dec. 124(6):e1116-25. [Medline].

  15. Burton BK. Newborn screening for Pompe disease: an update, 2011. Am J Med Genet C Semin Med Genet. 2012 Feb 15. 160(1):8-12. [Medline].

  16. Mah C, Cresawn KO, Fraites TJ Jr, Pacak CA, Lewis MA, Zolotukhin I. Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors. Gene Ther. 2005 Sep. 12(18):1405-9. [Medline].

  17. Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. 2000 Feb. 18(1):151-65. [Medline].

  18. Ambrosino N, Confalonieri M, Crescimanno G, Vianello A, Vitacca M. The role of respiratory management of Pompe disease. Respir Med. 2013 Aug. 107(8):1124-32. [Medline].

  19. Angelini C, Nascimbeni AC, Semplicini C. Therapeutic advances in the management of Pompe disease and other metabolic myopathies. Ther Adv Neurol Disord. 2013 Sep. 6(5):311-21. [Medline]. [Full Text].

  20. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. 2000 Jan. 105(1):e10. [Medline].

  21. Banugaria SG, Patel TT, Mackey J, Das S, Amalfitano A, Rosenberg AS, et al. Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells. Mol Genet Metab. 2012 Apr. 105(4):677-80. [Medline]. [Full Text].

  22. Barbullushi M, Idrizi A, Bolleku E, Laku A, Pilaca A. Pompe disease with heterogeneous presentations within a family. Med Arch. 2013. 67(4):297-8. [Medline].

  23. Beck M. Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease. Ther Clin Risk Manag. 2009. 5:767-72. [Medline]. [Full Text].

  24. Bhengu L, Davidson A, du Toit P, Els C, Gerntholtz T, Govendrageloo K, et al. Diagnosis and management of Pompe disease. S Afr Med J. 2014 Apr. 104(4):273-4. [Medline].

  25. Bijvoet AG, Van Hirtum H, Kroos MA. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet. 1999 Nov. 8(12):2145-53. [Medline].

  26. Bodamer OA, Dajnoki A. Diagnosing lysosomal storage disorders: Pompe disease. Curr Protoc Hum Genet. 2012 Oct. Chapter 17:Unit17.11. [Medline].

  27. Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, et al. Pompe disease gene therapy. Hum Mol Genet. 2011 Apr 15. 20:R61-8. [Medline]. [Full Text].

  28. Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol. 2013 Aug. 54(4):219-27. [Medline].

  29. Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar. 45(3):319-33. [Medline]. [Full Text].

  30. Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, et al. Pompe disease: literature review and case series. Neurol Clin. 2014 Aug. 32(3):751-76, ix. [Medline].

  31. Elder ME, Nayak S, Collins SW, Lawson LA, Kelley JS, Herzog RW, et al. B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2013 Sep. 163(3):847-54.e1. [Medline]. [Full Text].

  32. Finsterer J. Dilative arteriopathy in metabolic myopathies, particularly Pompe's disease. Acta Neurol Belg. 2012 Mar. 112(1):15-8. [Medline].

  33. Gaeta M, Barca E, Ruggeri P, Minutoli F, Rodolico C, Mazziotti S, et al. Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. Mol Genet Metab. 2013 Nov. 110(3):290-6. [Medline].

  34. Goldberg T, Slonim AE. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. 1993 Dec. 93(12):1423-30. [Medline].

  35. Gungor D, de Vries JM, Brusse E, Kruijshaar ME, Hop WC, Murawska M, et al. Enzyme replacement therapy and fatigue in adults with Pompe disease. Mol Genet Metab. 2013 Jun. 109(2):174-8. [Medline].

  36. Hirshhorn R, Reuser A. Glycogen Storage Disease Type II: Acid alpha-Glucosidase (Acid Maltase) Deficiency. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001. 3389-3420.

  37. Hobson-Webb LD, Jones HN, Kishnani PS. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord. 2013 Apr. 23(4):319-23. [Medline].

  38. Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab. 2012 Aug. 106(4):462-9. [Medline].

  39. Hundsberger T, Rohrbach M, Kern L, Rösler KM. Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. J Neurol. 2013 Sep. 260(9):2279-85. [Medline].

  40. Hundsberger T, Rosler KM, Findling O. Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. J Neurol. 2014 Sep. 261(9):1684-90. [Medline].

  41. Kanters TA, Hagemans ML, van der Beek NA, Rutten FF, van der Ploeg AT, Hakkaart L. Burden of illness of Pompe disease in patients only receiving supportive care. J Inherit Metab Dis. 2011 Oct. 34(5):1045-52. [Medline]. [Full Text].

  42. Kanters TA, Hoogenboom-Plug I, Rutten-Van Mölken MP, Redekop WK, van der Ploeg AT, Hakkaart L. Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease. Orphanet J Rare Dis. 2014 May 16. 9:75. [Medline]. [Full Text].

  43. Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Mol Genet Metab. 2014 Sep-Oct. 113(1-2):84-91. [Medline].

  44. Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct. 161A(10):2431-43. [Medline].

  45. Kishnani PS, Beckemeyer AA, Mendelsohn NJ. The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Am J Med Genet C Semin Med Genet. 2012 Feb 15. 160C(1):1-7. [Medline].

  46. Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, et al. 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. Hum Mutat. 2012 Aug. 33(8):1161-5. [Medline].

  47. Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. The genotype-phenotype correlation in Pompe disease. Am J Med Genet C Semin Med Genet. 2012 Feb 15. 160C(1):59-68. [Medline].

  48. Lacana E, Yao LP, Pariser AR, Rosenberg AS. The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease. Am J Med Genet C Semin Med Genet. 2012 Feb 15. 160C(1):30-9. [Medline].

  49. Lachmann R, Schoser B. The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?. Orphanet J Rare Dis. 2013 Oct 12. 8:160. [Medline]. [Full Text].

  50. Laforet P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, et al. The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease. Rev Neurol (Paris). 2013 Aug-Sep. 169(8-9):595-602. [Medline].

  51. Maggi L, Salerno F, Bragato C, Saredi S, Blasevich F, Maccagnano E, et al. Familial adult-onset Pompe disease associated with unusual clinical and histological features. Acta Myol. 2013 Oct. 32(2):85-90. [Medline]. [Full Text].

  52. Melvin JJ. Pompe's disease. Arch Neurol. 2000 Jan. 57(1):134-5. [Medline].

  53. Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, et al. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012 Jan. 14(1):135-42. [Medline]. [Full Text].

  54. Murphy SM, Puwanant A, Griggs RC. Unintended effects of orphan product designation for rare neurological diseases. Ann Neurol. 2012 Oct. 72(4):481-90. [Medline]. [Full Text].

  55. Orho M, Bosshard NU, Buist NR. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. 1998 Aug 1. 102(3):507-15. [Medline].

  56. Palermo AT, Palmer RE, So KS, Oba-Shinjo SM, Zhang M, Richards B, et al. Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients. Mol Genet Metab. 2012 Jul. 106(3):287-300. [Medline].

  57. Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B. Screening for late-onset Pompe disease in Finland. Neuromuscul Disord. 2014 Jun 28. [Medline].

  58. Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab. 2012 Jul. 106(3):301-9. [Medline].

  59. Prater SN, Patel TT, Buckley AF, Mandel H, Vlodavski E, Banugaria SG, et al. Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy. Orphanet J Rare Dis. 2013 Jun 20. 8:90. [Medline]. [Full Text].

  60. Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab. 2013 Nov. 110(3):287-9. [Medline].

  61. Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab. 2013 Nov. 110(3):287-9. [Medline].

  62. Sahin M, du Plessis AJ. Hydrocephalus associated with glycogen storage disease type II (Pompe's disease). Pediatr Neurol. 1999 Sep. 21(3):674-6. [Medline].

  63. Schuller A, Wenninger S, Strigl-Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012 Feb 15. 160C(1):80-8. [Medline].

  64. Smit GP, Fernandes J, Leonard JV. The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis. 1990. 13(4):411-8. [Medline].

  65. Smith BK, Collins SW, Conlon TJ, Mah CS, Lawson LA, Martin AD, et al. Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. Hum Gene Ther. 2013 Jun. 24(6):630-40. [Medline]. [Full Text].

  66. Spada M, Porta F, Vercelli L, Pagliardini V, Chiado-Piat L, Boffi P, et al. Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab. 2013 Jun. 109(2):171-3. [Medline].

  67. Spiridigliozzi GA, Heller JH, Kishnani PS. Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up. Am J Med Genet C Semin Med Genet. 2012 Feb 15. 160C(1):22-9. [Medline].

  68. Stevens AN, Iles RA, Morris PG. Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance. FEBS Lett. 1982 Dec 27. 150(2):489-93. [Medline].

  69. Sun B, Zhang H, Franco LM, Brown T, Bird A, Schneider A. Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther. 2005 Jun. 11(6):889-98. [Medline].

  70. Teener JW. Late-onset Pompe's disease. Semin Neurol. 2012 Nov. 32(5):506-11. [Medline].

  71. Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013 Apr. 260(4):951-9. [Medline].

  72. van der Meijden JC, Gungor D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT. Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease. J Inherit Metab Dis. 2014 Aug 12. [Medline].

  73. van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010 Apr 15. 362(15):1396-406. [Medline].

  74. van El CG, Rigter T, Reuser AJ, van der Ploeg AT, Weinreich SS, Cornel MC. Newborn screening for pompe disease? a qualitative study exploring professional views. BMC Pediatr. 2014 Aug 14. 14:203. [Medline]. [Full Text].

  75. Wang RY, Bodamer OA, Watson MS, Wilcox WR. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May. 13(5):457-84. [Medline].

  76. Wang Z, Okamoto P, Keutzer J. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2014 Feb. 111(2):92-100. [Medline].

  77. Wens SC, Kuperus E, Mattace-Raso FU, Kruijshaar ME, Brusse E, van Montfort KC, et al. Increased aortic stiffness and blood pressure in non-classic Pompe disease. J Inherit Metab Dis. 2014 May. 37(3):391-7. [Medline]. [Full Text].

  78. Wolfsdorf JI, Holm IA, Weinstein DA. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am. 1999 Dec. 28(4):801-23. [Medline].

Glycogen storage disease, type II. Metabolic pathways of carbohydrates.
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