Bali DS, El-Gharbawy A, Austin S, Pendyal S, Kishnani PS. Glycogen Storage Disease Type I. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A, editors. GeneReviews®. Seattle, Seattle (WA): University of Washington; 1993.

Google Scholar 

Schreuder AB, Rossi A, Grünert SC, Derks TG. Glycogen Storage Disease Type III. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A, editors. GeneReviews®. Seattle, Seattle (WA): University of Washington; 1993.

Google Scholar 

Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS. Phosphorylase kinase Deficiency. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A, editors. GeneReviews®. Seattle, Seattle (WA): University of Washington; 1993.

Google Scholar 

Labrador E, Weinstein DA. Glycogen Storage Disease Type VI. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A, editors. GeneReviews®. Seattle, Seattle (WA): University of Washington; 1993.

Google Scholar 

Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS. American College of Medical Genetics and Genomics: diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014;16. https://doi.org/10.1038/gim.2014.128. e1.

Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Glycogen Storage Disease Type Ia: current management options, Burden and Unmet needs. Nutrients. 2021;13(3828). https://doi.org/10.3390/nu13113828.

Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M, CONNECT MetabERN Collaboration Group, Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single-center study and the generation of www.emergencyprotocol.net. J Inherit Metab Dis. 2021;44(5):1124–35. https://doi.org/10.1002/jimd.12386.

Article  PubMed  PubMed Central  Google Scholar 

Dambska M, Labrador EB, Kuo CL, Weinstein DA. Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. Pediatr Diabetes. 2017;18:327–31. https://doi.org/10.1111/pedi.12540.

Article  CAS  PubMed  Google Scholar 

Ross KM, Ferrecchia IA, Dahlberg KR, Dambska M, Ryan PT, Weinstein DA. Dietary Management of the glycogen Storage diseases: evolution of treatment and ongoing controversies. Adv Nutr. 2020;11:439–46. https://doi.org/10.1093/advances/nmz092.

Article  PubMed  Google Scholar 

Dunger DB, Holder AT, Leonard JV, Okae J, Preece MA. Growth and endocrine changes in the hepatic glycogenoses. Eur J Pediatr. 1982;138:226–30. https://doi.org/10.1007/BF00441207.

Article  CAS  PubMed  Google Scholar 

Lee PJ, Leonard JV. The hepatic glycogen storage diseases–problems beyond childhood. J Inherit Metab Dis. 1995;18:462–72. https://doi.org/10.1007/BF00710057.

Article  CAS  PubMed  Google Scholar 

Melis D, Pivonello R, Cozzolino M, Della Casa R, Balivo F, Del Puente A, Dionisi-Vici C, Cotugno G, Zuppaldi C, Rigoldi M, Parini R, Colao A, Andria G, Parenti G. Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b. Horm Res Paediatr. 2014;81:55–62. https://doi.org/10.1159/000351022.

Article  CAS  PubMed  Google Scholar 

Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Lombardi G, Sebastio G, Colao A, Andria G. Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. J Pediatr. 2007;150:300–5. https://doi.org/10.1016/j.jpeds.2006.11.056.

Article  CAS  PubMed  Google Scholar 

Mundy HR, Hindmarsh PC, Matthews DR, Leonard JV, Lee PJ. The regulation of growth in glycogen storage disease type 1. Clin Endocrinol (Oxf). 2003;58:332–9. https://doi.org/10.1046/j.1365-2265.2003.01717.x.

Article  CAS  PubMed  Google Scholar 

Szymańska E, Lipiński P, Rokicki D, Książyk J, Tylki-Szymańska A. Over 20-Year follow-up of patients with hepatic glycogen Storage diseases: single-center experience. Diagnostics (Basel). 2020;10:297. https://doi.org/10.3390/diagnostics10050297.

Article  PubMed  Google Scholar 

Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab. 2006;87:284–8. https://doi.org/10.1016/j.ymgme.2005.10.006.

Article  CAS  PubMed  Google Scholar 

Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. J Inherit Metab Dis. 2016;39:697–704. https://doi.org/10.1007/s10545-016-9932-2.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fernandes SA, Cooper GE, Gibson RA, Kishnani PS. Benign or not benign? Deep phenotyping of liver glycogen storage disease IX. Mol Genet Metab. 2020;131:299–305. https://doi.org/10.1016/j.ymgme.2020.10.004.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rake J, Visser G, Labrune P, Leonard J, Ullrich K, Smit P. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen Storage Disease Type I (ESGSD I). Eur J Pediatrics. 2002;161:S20–34. https://doi.org/10.1007/s00431-002-0999-4.

Article  CAS  Google Scholar 

Luo X, Duan Y, Fang D, Sun Y, Xiao B, Zhang H, Han L, Liang L, Gong Z, Gu X, Yu Y, Qiu W. Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China. Hum Mutat. 2022;43:557–67. https://doi.org/10.1002/humu.24345.

Article  CAS  PubMed  Google Scholar 

Derks TGJ, Peeks F, de Boer F, van der Fokkert-Wilts M, Szymańska E, Rokicki D, Ryan PT, Weinstein DA. The potential of dietary treatment in patients with glycogen storage disease type IV. J Inherit Metab Dis. 2021;44(3):693–704. https://doi.org/10.1002/jimd.12339.

Article  CAS  PubMed  Google Scholar 

Manz F, Bickel H, Brodehl J, Feist D, Gellissen K, Geschöll-Bauer B, Gilli G, Harms E, Helwig H, Nützenadel W, Waldherr R. Fanconi-Bickel syndrome. Pediatr Nephrol. 1987;1:509–18. https://doi.org/10.1007/BF00849262.

Article  CAS  PubMed  Google Scholar 

Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatrics. 1998;157:783–97. https://doi.org/10.1007/s004310050937.

Article  CAS  Google Scholar 

Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome - A Congenital Defect of Facilitative Glucose Transport. CMM. 2002;2:213–27. https://doi.org/10.2174/1566524024605743.

Article  CAS  Google Scholar 

Govindarajan S, Khandelwal P, Sharma S, Agarwala A, Sinha A, Hari P, Bagga A. Clinical features and genetic sequencing of children with Fanconi–Bickel Syndrome. Indian J Pediatr. 2023;90:178–80. https://doi.org/10.1007/s12098-022-04372-0.

Article  PubMed  Google Scholar 

Schippers HM, Smit GPA, Rake JP, Visser G. Characteristic growth pattern in male X-linked phosphorylase‐b kinase deficiency (GSD IX). J Inher Metab Disea. 2003;26:43–7. https://doi.org/10.1023/A:1024071328772.

Article  CAS  Google Scholar 

Jackson DG, Koch RL, Pendyal S, Benjamin R, Kishnani PS. Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy. JIMD Rep. 2023;64:303–11. https://doi.org/10.1002/jmd2.12381.

Article  PubMed  PubMed Central  Google Scholar 

Nuoffer JM, Mullis PE, Wiesmann UN. Treatment with low-dose diazoxide in two growth‐retarded prepubertal girls with glycogen storage disease type Ia resulted in catch‐up growth. J Inher Metab Disea. 1997;20:790–8. https://doi.org/10.1023/A:1005319818015.

Article  CAS  Google Scholar 

Dagdelen S, Atmaca A, Alikasifoglu A, Erbas T. Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. J Med Case Rep. 2008;2:210. https://doi.org/10.1186/1752-1947-2-210.

Article  PubMed  PubMed Central  Google Scholar 

Karnsakul W, Gillespie S, Skitarelic K, Hummel M. Obesity and reversed growth retardation in a child with type Ia glycogen Storage Disease. J Pediatr Endocrinol Metab. 2010;23. https://doi.org/10.1515/jpem.2010.083.

Dunger DB, Leonard JV, Preece MA. Patterns of growth in the hepatic glycogenoses. Arch Dis Child. 1984;59:657–60. https://doi.org/10.1136/adc.59.7.657.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brown LM, Van Der Corrado MM, Derks TGJ, Chen MA, Siegel S, Hoyt K, Correia CE, Lumpkin C, Flanagan TB, Carreras CT, Weinstein DA. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. J Inher Metab Disea. 2015;38:489–93. https://doi.org/10.1007/s10545-014-9744-1.

Article  CAS  Google Scholar 

Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Sci. 2019;21:772–89. https://doi.org/10.1038/s41436-018-0364-2.

Article  Google Scholar 

Kuemmerle N, Krieg RJ, Latta K, Challa A, Hanna JD, Chan JC. Growth hormone and insulin-like growth factor in non-uremic acidosis and uremic acidosis. Kidney Int Suppl. 1997;58:S102–105.

CAS  PubMed  Google Scholar 

Brüngger M, Hulter HN, Krapf R. Effect of chronic metabolic acidosis on the growth hormone/IGF-1 endocrine axis: new cause of growth hormone insensitivity in humans. Kidney Int. 1997;51:216–21. https://doi.org/10.1038/ki.1997.26.

Article  PubMed  Google Scholar 

Casanueva FF, Villanueva L, Dieguez C, Diaz Y, Cabranes JA, Szoke B, Scanlon MF, Schally AV, Fernandez-Cruz A. Free fatty acids Block Growth hormone (GH) releasing hormone-stimulated GH Secretion in Man directly at the Pituitary*. J Clin Endocrinol Metabolism. 1987;65:634–42. https://doi.org/10.1210/jcem-65-4-634.

Article  CAS  Google Scholar 

Derks TGJ, Van Rijn M. Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions. J Inher Metab Disea. 2015;38:537–43. https://doi.org/10.1007/s10545-015-9811-2.

Article  CAS