53
References
1. Smith L, Harding CO. Inborn errors of metabolism. In: Fuhrman BP, Zimmerman JJ, editors.
Pediatric critical care. 4th ed. Saint Louis: Mosby; 2011. p. 1089–104.
2. DeBerardinis RJ, Thompson CB. Metabolism of cell growth and proliferation. In: Mendelsohn
J, Howley PM, Israel MA, Gray JW, Thompson CB, editors. The molecular basis of cancer. 3rd
ed. Philadelphia: W.B. Saunders; 2008. p. 189–203.
3. Shimizu K. Main metabolism. In: Shimizu K, editor. Bacterial cellular metabolic systems.
Sawston: Woodhead Publishing; 2013. p. 1–54.
4. Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S. Common metabolic disorder (inborn
errors of metabolism) concerns in primary care practice. Ann Trans Med. 2018;6(24):469.
5. Gregersen N. Metabolic disorders, mutants. In: Brenner S, Miller JH, editors. Encyclopedia of
genetics. New York: Academic Press; 2001. p. 1187–8.
6. De Meirleir L, Rodan LH. Approach to the patient with a metabolic disorder. In: Swaiman KF,
Ashwal S, Ferriero DM, Schor NF, Finkel RS, Gropman AL, et al., editors. Swaiman's pediatric neurology. 6th ed. Edingburgh: Elsevier; 2017. p. 277–85.
7. Ezgu F. Inborn errors of metabolism. In: Makowski GS, editor. Advances in clinical chemistry,
vol. 73. San Diego: Elsevier; 2016. p. 195–250.
8. Maughan R. Carbohydrate metabolism. Surgery. 2013;31(6):273–7.
9. Dashty M. A quick look at biochemistry: carbohydrate metabolism. Clin Biochem.
2013;46(15):1339–52.
10. Ferguson AM. Carbohydrate disorders. In: Garg U, Smith LD, editors. Biomarkers in inborn
errors of metabolism. San Diego: Elsevier; 2017. p. 155–66.
11. Roe TF, Ng WG, Smit PGA. Disorders of carbohydrate and glycogen metabolism. In: Blau N,
Duran M, Blaskovics ME, Gibson KM, editors. Physician’s guide to the laboratory diagnosis
of metabolic diseases. Berlin, Heidelberg: Springer; 2003. p. 335–55.
12. Tang M, Etokidem E, Lai K. The Leloir pathway of galactose metabolism—a novel therapeutic target for hepatocellular carcinoma. Anticancer Res. 2016;36(12):6265–71.
13. Berry GT. Disorders of galactose metabolism. In: Rosenberg RN, Pascual JM, editors.
Rosenberg’s molecular and genetic basis of neurological and psychiatric disease. 5th ed.
Boston: Academic Press; 2015. p. 615–26.
14. Schwarz V. Disorders of galactose metabolism. J Clin Pathol Suppl. 1969;2:72–5.
15. Berry GT, Segal S, Gitzelmann R. Disorders of galactose metabolism. In: Fernandes J,
Saudubray J-M, van den Berghe G, Walter JH, editors. Inborn metabolic diseases: diagnosis
and treatment. Berlin, Heidelberg: Springer; 2006. p. 121–30.
16. Sacca SC, Bolognesi C, Battistella A, Bagnis A, Izzotti A. Gene–environment interactions in
ocular diseases. Mutat Res. 2009;667(1):98–117.
17. Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lucke T, et al. Early cataract formation due
to galactokinase deficiency: impact of newborn screening. Arch Med Res. 2011;42(7):608–12.
18. Steinmann B, Santer R, Berghe G. Disorders of fructose metabolism. Inborn Metab Dis.
2006;1:135–42.
19. Sun SZ, Empie MW. Fructose metabolism in humans—what isotopic tracer studies tell us.
Nutr Metab. 2012;9(1):89.
20. Froesch ER. Disorders of fructose metabolism. J Clin Pathol Suppl. 1969;2:7–12.
21. Gitzelmann R, Steinmann B, Berghe van den G. Essential fructosuria, hereditary fructose intolerance, and fructose-1,6-diphosphatase deficiency. Metab Basis Inher Dis. 1983;1:118–40.
22. Froesch ER. Disorders of fructose metabolism. Clin Endocrinol Metabol. 1976;5(3):599–611.
23. Cox TM. Hereditary fructose intolerance. In: Lifton RP, Somlo S, Giebisch GH, Seldin DW,
editors. Genetic diseases of the kidney. San Diego: Academic Press; 2009. p. 617–41.
24. Merritt JL, Gallagher RC. Inborn errors of carbohydrate, ammonia, amino acid, and organic
acid metabolism. In: Gleason CA, Juul SE, editors. Avery’s diseases of the newborn. 10th ed.
Philadelphia: Elsevier; 2018. p. 230–52.
25. Drash A, Field J. The glycogen storage diseases. Disease. 1971;17(10):1–40.
2 Impaired Carbohydrate Metabolism in Metabolic Disorders
References
1. Smith L, Harding CO. Inborn errors of metabolism. In: Fuhrman BP, Zimmerman JJ, editors.
Pediatric critical care. 4th ed. Saint Louis: Mosby; 2011. p. 1089–104.
2. DeBerardinis RJ, Thompson CB. Metabolism of cell growth and proliferation. In: Mendelsohn
J, Howley PM, Israel MA, Gray JW, Thompson CB, editors. The molecular basis of cancer. 3rd
ed. Philadelphia: W.B. Saunders; 2008. p. 189–203.
3. Shimizu K. Main metabolism. In: Shimizu K, editor. Bacterial cellular metabolic systems.
Sawston: Woodhead Publishing; 2013. p. 1–54.
4. Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S. Common metabolic disorder (inborn
errors of metabolism) concerns in primary care practice. Ann Trans Med. 2018;6(24):469.
5. Gregersen N. Metabolic disorders, mutants. In: Brenner S, Miller JH, editors. Encyclopedia of
genetics. New York: Academic Press; 2001. p. 1187–8.
6. De Meirleir L, Rodan LH. Approach to the patient with a metabolic disorder. In: Swaiman KF,
Ashwal S, Ferriero DM, Schor NF, Finkel RS, Gropman AL, et al., editors. Swaiman's pediatric neurology. 6th ed. Edingburgh: Elsevier; 2017. p. 277–85.
7. Ezgu F. Inborn errors of metabolism. In: Makowski GS, editor. Advances in clinical chemistry,
vol. 73. San Diego: Elsevier; 2016. p. 195–250.
8. Maughan R. Carbohydrate metabolism. Surgery. 2013;31(6):273–7.
9. Dashty M. A quick look at biochemistry: carbohydrate metabolism. Clin Biochem.
2013;46(15):1339–52.
10. Ferguson AM. Carbohydrate disorders. In: Garg U, Smith LD, editors. Biomarkers in inborn
errors of metabolism. San Diego: Elsevier; 2017. p. 155–66.
11. Roe TF, Ng WG, Smit PGA. Disorders of carbohydrate and glycogen metabolism. In: Blau N,
Duran M, Blaskovics ME, Gibson KM, editors. Physician’s guide to the laboratory diagnosis
of metabolic diseases. Berlin, Heidelberg: Springer; 2003. p. 335–55.
12. Tang M, Etokidem E, Lai K. The Leloir pathway of galactose metabolism—a novel therapeutic target for hepatocellular carcinoma. Anticancer Res. 2016;36(12):6265–71.
13. Berry GT. Disorders of galactose metabolism. In: Rosenberg RN, Pascual JM, editors.
Rosenberg’s molecular and genetic basis of neurological and psychiatric disease. 5th ed.
Boston: Academic Press; 2015. p. 615–26.
14. Schwarz V. Disorders of galactose metabolism. J Clin Pathol Suppl. 1969;2:72–5.
15. Berry GT, Segal S, Gitzelmann R. Disorders of galactose metabolism. In: Fernandes J,
Saudubray J-M, van den Berghe G, Walter JH, editors. Inborn metabolic diseases: diagnosis
and treatment. Berlin, Heidelberg: Springer; 2006. p. 121–30.
16. Sacca SC, Bolognesi C, Battistella A, Bagnis A, Izzotti A. Gene–environment interactions in
ocular diseases. Mutat Res. 2009;667(1):98–117.
17. Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lucke T, et al. Early cataract formation due
to galactokinase deficiency: impact of newborn screening. Arch Med Res. 2011;42(7):608–12.
18. Steinmann B, Santer R, Berghe G. Disorders of fructose metabolism. Inborn Metab Dis.
2006;1:135–42.
19. Sun SZ, Empie MW. Fructose metabolism in humans—what isotopic tracer studies tell us.
Nutr Metab. 2012;9(1):89.
20. Froesch ER. Disorders of fructose metabolism. J Clin Pathol Suppl. 1969;2:7–12.
21. Gitzelmann R, Steinmann B, Berghe van den G. Essential fructosuria, hereditary fructose intolerance, and fructose-1,6-diphosphatase deficiency. Metab Basis Inher Dis. 1983;1:118–40.
22. Froesch ER. Disorders of fructose metabolism. Clin Endocrinol Metabol. 1976;5(3):599–611.
23. Cox TM. Hereditary fructose intolerance. In: Lifton RP, Somlo S, Giebisch GH, Seldin DW,
editors. Genetic diseases of the kidney. San Diego: Academic Press; 2009. p. 617–41.
24. Merritt JL, Gallagher RC. Inborn errors of carbohydrate, ammonia, amino acid, and organic
acid metabolism. In: Gleason CA, Juul SE, editors. Avery’s diseases of the newborn. 10th ed.
Philadelphia: Elsevier; 2018. p. 230–52.
25. Drash A, Field J. The glycogen storage diseases. Disease. 1971;17(10):1–40.
2 Impaired Carbohydrate Metabolism in Metabolic Disorders