Glycogen storage disease type I natural history, complications and prognosis: Difference between revisions

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==Complications==
==Complications==
Common complications of glycogen storage disease type I include:<ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}}</ref><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
Common complications of glycogen storage disease type I include:<ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}}</ref><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
</ref><ref name="pmid12373580">{{cite journal| author=Humbert M, Labrune P, Simonneau G| title=Severe pulmonary arterial hypertension in type 1 glycogen storage disease. | journal=Eur J Pediatr | year= 2002 | volume= 161 Suppl 1 | issue=  | pages= S93-6 | pmid=12373580 | doi=10.1007/s00431-002-1012-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12373580  }} </ref><ref name="pmid8739968">{{cite journal| author=Kishnani P, Bengur AR, Chen YT| title=Pulmonary hypertension in glycogen storage disease type I. | journal=J Inherit Metab Dis | year= 1996 | volume= 19 | issue= 2 | pages= 213-6 | pmid=8739968 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8739968  }} </ref><ref name="pmid19596478">{{cite journal| author=Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM et al.| title=Liver transplantation for glycogen storage disease type Ia. | journal=J Hepatol | year= 2009 | volume= 51 | issue= 3 | pages= 483-90 | pmid=19596478 | doi=10.1016/j.jhep.2009.05.026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19596478  }} </ref><ref name="pmid17637480">{{cite journal| author=Reddy SK, Kishnani PS, Sullivan JA, Koeberl DD, Desai DM, Skinner MA et al.| title=Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. | journal=J Hepatol | year= 2007 | volume= 47 | issue= 5 | pages= 658-63 | pmid=17637480 | doi=10.1016/j.jhep.2007.05.012 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17637480  }} </ref><ref name="pmid11211215">{{cite journal| author=Kudo M| title=Hepatocellular adenoma in type Ia glycogen storage disease. | journal=J Gastroenterol | year= 2001 | volume= 36 | issue= 1 | pages= 65-6 | pmid=11211215 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11211215  }} </ref><ref name="pmid4350560">{{cite journal| author=Czapek EE, Deykin D, Salzman EW| title=Platelet dysfunction in glycogen storage disease type I. | journal=Blood | year= 1973 | volume= 41 | issue= 2 | pages= 235-47 | pmid=4350560 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4350560  }} </ref><ref name="pmid16435187">{{cite journal| author=Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K et al.| title=Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia. | journal=J Inherit Metab Dis | year= 2005 | volume= 28 | issue= 6 | pages= 945-50 | pmid=16435187 | doi=10.1007/s10545-005-0184-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16435187  }} </ref><ref name="pmid12393428">{{cite journal| author=Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, Andrews NC| title=Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. | journal=Blood | year= 2002 | volume= 100 | issue= 10 | pages= 3776-81 | pmid=12393428 | doi=10.1182/blood-2002-04-1260 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12393428  }} </ref><ref name="MinarichKirpich2012">{{cite journal|last1=Minarich|first1=Laurie A.|last2=Kirpich|first2=Alexander|last3=Fiske|first3=Laurie M.|last4=Weinstein|first4=David A.|title=Bone mineral density in glycogen storage disease type Ia and Ib|journal=Genetics in Medicine|volume=14|issue=8|year=2012|pages=737–741|issn=1098-3600|doi=10.1038/gim.2012.36}}</ref><ref name="pmid8319728">{{cite journal| author=Reitsma-Bierens WC| title=Renal complications in glycogen storage disease type I. | journal=Eur J Pediatr | year= 1993 | volume= 152 Suppl 1 | issue=  | pages= S60-2 | pmid=8319728 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8319728  }} </ref><ref name="pmid11241046">{{cite journal| author=Weinstein DA, Somers MJ, Wolfsdorf JI| title=Decreased urinary citrate excretion in type 1a glycogen storage disease. | journal=J Pediatr | year= 2001 | volume= 138 | issue= 3 | pages= 378-82 | pmid=11241046 | doi=10.1067/mpd.2001.111322 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11241046  }} </ref><ref name="pmid12373572">{{cite journal| author=Labrune P| title=Glycogen storage disease type I: indications for liver and/or kidney transplantation. | journal=Eur J Pediatr | year= 2002 | volume= 161 Suppl 1 | issue=  | pages= S53-5 | pmid=12373572 | doi=10.1007/s00431-002-1004-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12373572  }} </ref><ref name="pmid22562700">{{cite journal| author=Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A et al.| title=Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. | journal=J Inherit Metab Dis | year= 2013 | volume= 36 | issue= 1 | pages= 83-9 | pmid=22562700 | doi=10.1007/s10545-012-9490-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22562700  }} </ref><ref name="pmid24201678">{{cite journal| author=Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS| title=Menorrhagia in patients with type I glycogen storage disease. | journal=Obstet Gynecol | year= 2013 | volume= 122 | issue= 6 | pages= 1246-54 | pmid=24201678 | doi=10.1097/01.AOG.0000435451.86108.82 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24201678  }} </ref>
</ref><ref name="pmid12373580">{{cite journal| author=Humbert M, Labrune P, Simonneau G| title=Severe pulmonary arterial hypertension in type 1 glycogen storage disease. | journal=Eur J Pediatr | year= 2002 | volume= 161 Suppl 1 | issue=  | pages= S93-6 | pmid=12373580 | doi=10.1007/s00431-002-1012-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12373580  }} </ref><ref name="pmid8739968">{{cite journal| author=Kishnani P, Bengur AR, Chen YT| title=Pulmonary hypertension in glycogen storage disease type I. | journal=J Inherit Metab Dis | year= 1996 | volume= 19 | issue= 2 | pages= 213-6 | pmid=8739968 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8739968  }} </ref><ref name="pmid19596478">{{cite journal| author=Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM et al.| title=Liver transplantation for glycogen storage disease type Ia. | journal=J Hepatol | year= 2009 | volume= 51 | issue= 3 | pages= 483-90 | pmid=19596478 | doi=10.1016/j.jhep.2009.05.026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19596478  }} </ref><ref name="pmid17637480">{{cite journal| author=Reddy SK, Kishnani PS, Sullivan JA, Koeberl DD, Desai DM, Skinner MA et al.| title=Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. | journal=J Hepatol | year= 2007 | volume= 47 | issue= 5 | pages= 658-63 | pmid=17637480 | doi=10.1016/j.jhep.2007.05.012 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17637480  }} </ref><ref name="pmid11211215">{{cite journal| author=Kudo M| title=Hepatocellular adenoma in type Ia glycogen storage disease. | journal=J Gastroenterol | year= 2001 | volume= 36 | issue= 1 | pages= 65-6 | pmid=11211215 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11211215  }} </ref><ref name="pmid4350560">{{cite journal| author=Czapek EE, Deykin D, Salzman EW| title=Platelet dysfunction in glycogen storage disease type I. | journal=Blood | year= 1973 | volume= 41 | issue= 2 | pages= 235-47 | pmid=4350560 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4350560  }} </ref><ref name="pmid16435187">{{cite journal| author=Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K et al.| title=Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia. | journal=J Inherit Metab Dis | year= 2005 | volume= 28 | issue= 6 | pages= 945-50 | pmid=16435187 | doi=10.1007/s10545-005-0184-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16435187  }} </ref><ref name="pmid12393428">{{cite journal| author=Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, Andrews NC| title=Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. | journal=Blood | year= 2002 | volume= 100 | issue= 10 | pages= 3776-81 | pmid=12393428 | doi=10.1182/blood-2002-04-1260 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12393428  }} </ref><ref name="MinarichKirpich2012">{{cite journal|last1=Minarich|first1=Laurie A.|last2=Kirpich|first2=Alexander|last3=Fiske|first3=Laurie M.|last4=Weinstein|first4=David A.|title=Bone mineral density in glycogen storage disease type Ia and Ib|journal=Genetics in Medicine|volume=14|issue=8|year=2012|pages=737–741|issn=1098-3600|doi=10.1038/gim.2012.36}}</ref><ref name="pmid8319728">{{cite journal| author=Reitsma-Bierens WC| title=Renal complications in glycogen storage disease type I. | journal=Eur J Pediatr | year= 1993 | volume= 152 Suppl 1 | issue=  | pages= S60-2 | pmid=8319728 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8319728  }} </ref><ref name="pmid11241046">{{cite journal| author=Weinstein DA, Somers MJ, Wolfsdorf JI| title=Decreased urinary citrate excretion in type 1a glycogen storage disease. | journal=J Pediatr | year= 2001 | volume= 138 | issue= 3 | pages= 378-82 | pmid=11241046 | doi=10.1067/mpd.2001.111322 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11241046  }} </ref><ref name="pmid12373572">{{cite journal| author=Labrune P| title=Glycogen storage disease type I: indications for liver and/or kidney transplantation. | journal=Eur J Pediatr | year= 2002 | volume= 161 Suppl 1 | issue=  | pages= S53-5 | pmid=12373572 | doi=10.1007/s00431-002-1004-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12373572  }} </ref><ref name="pmid22562700">{{cite journal| author=Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A et al.| title=Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. | journal=J Inherit Metab Dis | year= 2013 | volume= 36 | issue= 1 | pages= 83-9 | pmid=22562700 | doi=10.1007/s10545-012-9490-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22562700  }} </ref><ref name="pmid24201678">{{cite journal| author=Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS| title=Menorrhagia in patients with type I glycogen storage disease. | journal=Obstet Gynecol | year= 2013 | volume= 122 | issue= 6 | pages= 1246-54 | pmid=24201678 | doi=10.1097/01.AOG.0000435451.86108.82 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24201678 }} </ref><ref name="pmid7634500">{{cite journal| author=Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV| title=The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. | journal=Clin Endocrinol (Oxf) | year= 1995 | volume= 42 | issue= 6 | pages= 601-6 | pmid=7634500 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7634500 }} </ref>
*Bleeding tendency
*Bleeding tendency
**Impaired platelet function
**Impaired platelet function

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Natural History

  • GST type 1 presents first as an average age of 6 months (1 - 12 months).[1]
  • If left untreated, glycogen storage diseases develop complications including protruding abdomen due to marked hepatomegaly (storage of glycogen and fat), short stature, truncal obesity, rounded doll-like face, and wasted muscles.
  • Untreated patients usually have a cushingoid appearance due to short stature with a round face and full cheeks.[2]

Complications

Common complications of glycogen storage disease type I include:[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]

  • Bleeding tendency
    • Impaired platelet function
    • Von willebrand factor defect
  • Chronic renal failure requiring renal transplant
  • Delayed puberty
  • Gout arthritis due to hyperuricemia
  • Hepatic adenoma with potential for malignant transformation into hepatocellular carcinoma
  • Hypertriglyceridemia leading to
    • Acute pancreatitis
    • Cholelithiasis
  • Menorrhagia
  • Nephrolithiasis and nephrocalcinosis due to hyperuricemia
  • Osteopenia leading to pathologic fractures
  • Osteoporosis
  • Polycystic ovaries
  • Pulmonary hypertension
  • Pulmonary hypertension
  • Refractory anemia (especially in patients with hepatic adenoma)
  • Rickets
  • Splenomegaly (particularly in GSD type 1b)

Prognosis

  • If left untreated, patients with GSD I develops complications and dies in infancy or childhood of overwhelming hypoglycemia and acidosis.
  • Surviving individuals have stunted physical growth and delayed puberty due to chronically low insulin levels.
  • Mental retardation as a result of severe and recurrent hypoglycemia is considered preventable with appropriate treatment.

References

  1. ↑ 1.0 1.1 Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002). "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. Pediatr. 161 Suppl 1: S20–34. doi:10.1007/s00431-002-0999-4. PMID 12373567.
  2. ↑ 2.0 2.1 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
  3. ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
  4. ↑ Humbert M, Labrune P, Simonneau G (2002). "Severe pulmonary arterial hypertension in type 1 glycogen storage disease". Eur J Pediatr. 161 Suppl 1: S93–6. doi:10.1007/s00431-002-1012-y. PMID 12373580.
  5. ↑ Kishnani P, Bengur AR, Chen YT (1996). "Pulmonary hypertension in glycogen storage disease type I." J Inherit Metab Dis. 19 (2): 213–6. PMID 8739968.
  6. ↑ Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM; et al. (2009). "Liver transplantation for glycogen storage disease type Ia". J Hepatol. 51 (3): 483–90. doi:10.1016/j.jhep.2009.05.026. PMID 19596478.
  7. ↑ Reddy SK, Kishnani PS, Sullivan JA, Koeberl DD, Desai DM, Skinner MA; et al. (2007). "Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia". J Hepatol. 47 (5): 658–63. doi:10.1016/j.jhep.2007.05.012. PMID 17637480.
  8. ↑ Kudo M (2001). "Hepatocellular adenoma in type Ia glycogen storage disease". J Gastroenterol. 36 (1): 65–6. PMID 11211215.
  9. ↑ Czapek EE, Deykin D, Salzman EW (1973). "Platelet dysfunction in glycogen storage disease type I." Blood. 41 (2): 235–47. PMID 4350560.
  10. ↑ Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K; et al. (2005). "Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia". J Inherit Metab Dis. 28 (6): 945–50. doi:10.1007/s10545-005-0184-9. PMID 16435187.
  11. ↑ Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, Andrews NC (2002). "Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease". Blood. 100 (10): 3776–81. doi:10.1182/blood-2002-04-1260. PMID 12393428.
  12. ↑ Minarich, Laurie A.; Kirpich, Alexander; Fiske, Laurie M.; Weinstein, David A. (2012). "Bone mineral density in glycogen storage disease type Ia and Ib". Genetics in Medicine. 14 (8): 737–741. doi:10.1038/gim.2012.36. ISSN 1098-3600.
  13. ↑ Reitsma-Bierens WC (1993). "Renal complications in glycogen storage disease type I." Eur J Pediatr. 152 Suppl 1: S60–2. PMID 8319728.
  14. ↑ Weinstein DA, Somers MJ, Wolfsdorf JI (2001). "Decreased urinary citrate excretion in type 1a glycogen storage disease". J Pediatr. 138 (3): 378–82. doi:10.1067/mpd.2001.111322. PMID 11241046.
  15. ↑ Labrune P (2002). "Glycogen storage disease type I: indications for liver and/or kidney transplantation". Eur J Pediatr. 161 Suppl 1: S53–5. doi:10.1007/s00431-002-1004-y. PMID 12373572.
  16. ↑ Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A; et al. (2013). "Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study". J Inherit Metab Dis. 36 (1): 83–9. doi:10.1007/s10545-012-9490-1. PMID 22562700.
  17. ↑ Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS (2013). "Menorrhagia in patients with type I glycogen storage disease". Obstet Gynecol. 122 (6): 1246–54. doi:10.1097/01.AOG.0000435451.86108.82. PMID 24201678.
  18. ↑ Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV (1995). "The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism". Clin Endocrinol (Oxf). 42 (6): 601–6. PMID 7634500.

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