54
26. Stalmans W. Glucagon and liver glycogen metabolism. In: Lefèbvre PJ, editor. Glucagon
I. Berlin, Heidelberg: Springer; 1983. p. 291–314.
27. Adeva-Andany MM, González-Lucán M, Donapetry-García C, Fernández-Fernández C,
Ameneiros-Rodríguez E. Glycogen metabolism in humans. BBA Clin. 2016;5:85–100.
28. Srivastava AK, Pandey SK. Potential mechanism(s) involved in the regulation of glycogen
synthesis by insulin. Mol Cell Biochem. 1998;182(1–2):135–41.
29. Rosenfeld EL, Popova IA, Chibisov IV. Some cases of type III glycogen storage disease. Clin
Chim Acta. 1976;67(2):123–30.
30. Pelley JW. Gluconeogenesis and glycogen metabolism. In: Pelley JW, editor. Elsevier's integrated biochemistry. Philadelphia: Mosby; 2007. p. 65–71.
31. Hendriksz CJ, Gissen P. Glycogen storage disease. Paediatr Child Health. 2015;25(3):139–44.
32. Rake JP, Visser G, Smit GPA. Disorders of carbohydrate and glycogen metabolism. In: Blau N,
Leonard J, Hoffmann GF, Clarke JTR, editors. Physician’s guide to the treatment and followup of metabolic diseases. Berlin, Heidelberg: Springer; 2006. p. 161–80.
33. Bachrach BE, Weinstein DA, Orho-Melander M, Burgess A, Wolfsdorf JI. Glycogen synthase
deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria:
report of three new mutations. J Pediatr. 2002;140(6):781–3.
34. Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab.
2006;87(4):284–8.
35. Santos BL, de Souza CFM, Schuler-Faccini L, Refosco L, Epifanio M, Nalin T, et al. Glycogen
storage disease type I: clinical and laboratory profile. J Pediatr. 2014;90(6):572–9.
36. McAdams AJ, Hug G, Bove KE. Glycogen storage disease, types I to X: criteria for morphologic diagnosis. Hum Pathol. 1974;5(4):463–87.
37. Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483)
in French patients. Biochem Biophys Res Commun. 1997;235(1):138–41.
38. Meng H. Prenatal, newborn screen, and metabolic disorders. In: Meng H, editor. Selfassessment questions for clinical molecular genetics. New York: Academic Press; 2019.
p. 569–608.
39. Valayannopoulos V. Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression. In: Dulac O, Lassonde M, Sarnat HB,
editors. Handbook of clinical neurology, vol. 113. Amsterdam: Elsevier; 2013. p. 1851–7.
40. Sundaram SS, Alonso EM. Abnormalities of carbohydrate metabolism and the liver. In:
Wyllie R, Hyams JS, editors. Pediatric gastrointestinal and liver disease. 4th ed. Saint Louis:
W.B. Saunders; 2011. p. 795–803.
41. Nathan JD, Ryckman FC, Alonso MH, Tiao G. Transplantation for hepatic malignancy in
children. In: Busuttil RW, Klintmalm GBG, editors. Transplantation of the liver. 3rd ed.
Philadelphia: W.B. Saunders; 2015. p. 346–58.
42. Chong-Nguyen C, Fayssoil A, Laforet P, Gajdos V, Petit F, Hubert A, et al. Hypertrophic cardiomyopathy in glycogen storage disease type III: Clinical features and long-term outcome.
Archiv Cardiovas Dis Suppl. 2018;10(2):198–9.
43. Preisler N, Pradel A, Husu E, Madsen KL, Becquemin M-H, Mollet A, et al. Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency? Mol Genet Metab.
2013;109(1):14–20.
44. Kumari A. Glycogen storage disorders. In: Kumari A, editor. Sweet biochemistry. New York:
Academic Press; 2018. p. 53–7.
45. Venick RS, McDiarmid SV. Transplantation for metabolic disease in children. In: Busuttil RW,
Klintmalm GBG, editors. Transplantation of the liver. 3rd ed. Philadelphia: W.B. Saunders;
2015. p. 317–45.
46. Vorgerd M, Deschauer M. Treatment and management of hereditary metabolic myopathies.
In: Bertorini TE, editor. Neuromuscular disorders: treatment and management. Saint Louis:
W.B. Saunders; 2011. p. 409–29.
H. Sharif et al.
26. Stalmans W. Glucagon and liver glycogen metabolism. In: Lefèbvre PJ, editor. Glucagon
I. Berlin, Heidelberg: Springer; 1983. p. 291–314.
27. Adeva-Andany MM, González-Lucán M, Donapetry-García C, Fernández-Fernández C,
Ameneiros-Rodríguez E. Glycogen metabolism in humans. BBA Clin. 2016;5:85–100.
28. Srivastava AK, Pandey SK. Potential mechanism(s) involved in the regulation of glycogen
synthesis by insulin. Mol Cell Biochem. 1998;182(1–2):135–41.
29. Rosenfeld EL, Popova IA, Chibisov IV. Some cases of type III glycogen storage disease. Clin
Chim Acta. 1976;67(2):123–30.
30. Pelley JW. Gluconeogenesis and glycogen metabolism. In: Pelley JW, editor. Elsevier's integrated biochemistry. Philadelphia: Mosby; 2007. p. 65–71.
31. Hendriksz CJ, Gissen P. Glycogen storage disease. Paediatr Child Health. 2015;25(3):139–44.
32. Rake JP, Visser G, Smit GPA. Disorders of carbohydrate and glycogen metabolism. In: Blau N,
Leonard J, Hoffmann GF, Clarke JTR, editors. Physician’s guide to the treatment and followup of metabolic diseases. Berlin, Heidelberg: Springer; 2006. p. 161–80.
33. Bachrach BE, Weinstein DA, Orho-Melander M, Burgess A, Wolfsdorf JI. Glycogen synthase
deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria:
report of three new mutations. J Pediatr. 2002;140(6):781–3.
34. Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab.
2006;87(4):284–8.
35. Santos BL, de Souza CFM, Schuler-Faccini L, Refosco L, Epifanio M, Nalin T, et al. Glycogen
storage disease type I: clinical and laboratory profile. J Pediatr. 2014;90(6):572–9.
36. McAdams AJ, Hug G, Bove KE. Glycogen storage disease, types I to X: criteria for morphologic diagnosis. Hum Pathol. 1974;5(4):463–87.
37. Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483)
in French patients. Biochem Biophys Res Commun. 1997;235(1):138–41.
38. Meng H. Prenatal, newborn screen, and metabolic disorders. In: Meng H, editor. Selfassessment questions for clinical molecular genetics. New York: Academic Press; 2019.
p. 569–608.
39. Valayannopoulos V. Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression. In: Dulac O, Lassonde M, Sarnat HB,
editors. Handbook of clinical neurology, vol. 113. Amsterdam: Elsevier; 2013. p. 1851–7.
40. Sundaram SS, Alonso EM. Abnormalities of carbohydrate metabolism and the liver. In:
Wyllie R, Hyams JS, editors. Pediatric gastrointestinal and liver disease. 4th ed. Saint Louis:
W.B. Saunders; 2011. p. 795–803.
41. Nathan JD, Ryckman FC, Alonso MH, Tiao G. Transplantation for hepatic malignancy in
children. In: Busuttil RW, Klintmalm GBG, editors. Transplantation of the liver. 3rd ed.
Philadelphia: W.B. Saunders; 2015. p. 346–58.
42. Chong-Nguyen C, Fayssoil A, Laforet P, Gajdos V, Petit F, Hubert A, et al. Hypertrophic cardiomyopathy in glycogen storage disease type III: Clinical features and long-term outcome.
Archiv Cardiovas Dis Suppl. 2018;10(2):198–9.
43. Preisler N, Pradel A, Husu E, Madsen KL, Becquemin M-H, Mollet A, et al. Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency? Mol Genet Metab.
2013;109(1):14–20.
44. Kumari A. Glycogen storage disorders. In: Kumari A, editor. Sweet biochemistry. New York:
Academic Press; 2018. p. 53–7.
45. Venick RS, McDiarmid SV. Transplantation for metabolic disease in children. In: Busuttil RW,
Klintmalm GBG, editors. Transplantation of the liver. 3rd ed. Philadelphia: W.B. Saunders;
2015. p. 317–45.
46. Vorgerd M, Deschauer M. Treatment and management of hereditary metabolic myopathies.
In: Bertorini TE, editor. Neuromuscular disorders: treatment and management. Saint Louis:
W.B. Saunders; 2011. p. 409–29.
H. Sharif et al.