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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1946 2
1947 1
1950 3
1951 2
1952 5
1953 4
1954 3
1955 1
1956 3
1958 1
1959 2
1960 3
1961 2
1962 8
1963 3
1964 12
1965 12
1966 14
1967 6
1968 19
1969 24
1970 14
1971 11
1972 8
1973 10
1974 17
1975 16
1976 18
1977 19
1978 25
1979 13
1980 28
1981 24
1982 15
1983 23
1984 33
1985 18
1986 21
1987 16
1988 23
1989 22
1990 36
1991 25
1992 11
1993 43
1994 27
1995 34
1996 30
1997 23
1998 29
1999 31
2000 36
2001 45
2002 56
2003 34
2004 21
2005 25
2006 27
2007 31
2008 41
2009 52
2010 49
2011 38
2012 36
2013 34
2014 37
2015 33
2016 19
2017 26
2018 28
2019 36
2020 51
2021 37
2022 34
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2025 14

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1,606 results

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Page 1
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
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. Kishnani PS, et al. Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. Genet Med. 2014. PMID: 25356975 Free article.
PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. ...
PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that pri …
Glycogen storage diseases.
Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J. Hannah WB, et al. Nat Rev Dis Primers. 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z. Nat Rev Dis Primers. 2023. PMID: 37679331 Review.
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Grünert SC, Derks TGJ, Mundy H, Dalton RN, Donadieu J, Hofbauer P, Jones N, Uçar SK, LaFreniere J, Contreras EL, Pendyal S, Rossi A, Schneider B, Spiegel R, Stepien KM, Wesol-Kucharska D, Veiga-da-Cunha M, Wortmann SB. Grünert SC, et al. Mol Genet Metab. 2024 Mar;141(3):108144. doi: 10.1016/j.ymgme.2024.108144. Epub 2024 Jan 17. Mol Genet Metab. 2024. PMID: 38277989 Free article. Review.
Liver transplantation in glycogen storage disease type I.
Boers SJ, Visser G, Smit PG, Fuchs SA. Boers SJ, et al. Orphanet J Rare Dis. 2014 Apr 9;9:47. doi: 10.1186/1750-1172-9-47. Orphanet J Rare Dis. 2014. PMID: 24716823 Free PMC article. Review.
Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. ...
Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects …
Glycogen storage disease type I: indications for liver and/or kidney transplantation.
Labrune P. Labrune P. Eur J Pediatr. 2002 Oct;161 Suppl 1:S53-5. doi: 10.1007/s00431-002-1004-y. Epub 2002 Jul 19. Eur J Pediatr. 2002. PMID: 12373572 Review.
Even though significant progress has been achieved in the management of patients with glycogen storage disease type I, hepatic (mainly adenomas) and renal (proteinuria, renal failure) complications may still develop. ...CONCLUSION: organ (liver/ …
Even though significant progress has been achieved in the management of patients with glycogen storage disease type …
Glycogen storage disease type I and G6Pase-beta deficiency: etiology and therapy.
Chou JY, Jun HS, Mansfield BC. Chou JY, et al. Nat Rev Endocrinol. 2010 Dec;6(12):676-88. doi: 10.1038/nrendo.2010.189. Epub 2010 Oct 26. Nat Rev Endocrinol. 2010. PMID: 20975743 Free PMC article. Review.
Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosphatase-alpha (G6Pase-alpha) and GSD-Ib, which is characterized by an absence of a glucose-6-phosphate (G6P) transporter (G6PT). ...
Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosp …
1,606 results