Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1934 1
1941 2
1944 1
1946 4
1947 4
1948 4
1949 3
1950 13
1951 8
1952 17
1953 20
1954 16
1955 15
1956 20
1957 10
1958 19
1959 22
1960 22
1961 25
1962 34
1963 52
1964 71
1965 68
1966 53
1967 66
1968 71
1969 78
1970 96
1971 83
1972 93
1973 65
1974 85
1975 77
1976 84
1977 73
1978 94
1979 67
1980 72
1981 81
1982 81
1983 80
1984 107
1985 80
1986 97
1987 82
1988 88
1989 85
1990 105
1991 88
1992 69
1993 112
1994 99
1995 99
1996 108
1997 69
1998 121
1999 111
2000 129
2001 127
2002 144
2003 119
2004 115
2005 118
2006 150
2007 196
2008 216
2009 212
2010 233
2011 234
2012 268
2013 267
2014 255
2015 295
2016 253
2017 264
2018 265
2019 259
2020 359
2021 319
2022 312
2023 292
2024 274
2025 298
2026 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

8,657 results

Results by year

Filters applied: . Clear all
Page 1
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Kishnani PS, et al. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Genet Med. 2010. PMID: 20631546 Free article.
PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. ...Individuals with glycogen storage disease type III present with hepatomegaly, …
PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily t …
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.
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. ...Management includes surveillance for development of characteristic disease sequelae, avoidance of fasting in sev …
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of …
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired …
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants i …
Glycogen storage disease.
Kannourakis G. Kannourakis G. Semin Hematol. 2002 Apr;39(2):103-6. doi: 10.1053/shem.2002.31920. Semin Hematol. 2002. PMID: 11957192 Review.
Glycogen storage disease (GSD) is a rare autosomal-recessive disorder characterized by hypoglycemia, hepatosplenomegaly, seizures, and failure to thrive in infants. ...
Glycogen storage disease (GSD) is a rare autosomal-recessive disorder characterized by hypoglycemia, hepatosplenomegaly …
GLYCOGEN STORAGE DISEASE.
HERS HG. HERS HG. Adv Metab Disord. 1964;13:1-44. doi: 10.1016/b978-1-4831-6748-0.50006-9. Adv Metab Disord. 1964. PMID: 14171618 Review. No abstract available.
Glycogen storage disease type Ib: role of glucose-6-phosphate transporter in cell metabolism and function.
Sim SW, Weinstein DA, Lee YM, Jun HS. Sim SW, et al. FEBS Lett. 2020 Jan;594(1):3-18. doi: 10.1002/1873-3468.13666. Epub 2019 Nov 22. FEBS Lett. 2020. PMID: 31705665 Free article. Review.
Gaining insight into these metabolic alterations is, therefore, essential for understanding the pathophysiology of various diseases. Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder characterized by hypoglycemia, excessive glyco …
Gaining insight into these metabolic alterations is, therefore, essential for understanding the pathophysiology of various diseases. Glyc …
Glycogen storage disease.
Greene HL. Greene HL. Semin Liver Dis. 1982 Nov;2(4):291-301. doi: 10.1055/s-2008-1040716. Semin Liver Dis. 1982. PMID: 6763342 Review. No abstract available.
Gene therapy for glycogen storage diseases.
Koeberl DD, Koch RL, Lim JA, Brooks ED, Arnson BD, Sun B, Kishnani PS. Koeberl DD, et al. J Inherit Metab Dis. 2024 Jan;47(1):93-118. doi: 10.1002/jimd.12654. Epub 2023 Jul 27. J Inherit Metab Dis. 2024. PMID: 37421310 Free PMC article. Review.
Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. ...While promising, gene therapy and genome editing face challenges …
Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes in …
Glycogen storage disease types I and II: treatment updates.
Koeberl DD, Kishnani PS, Chen YT. Koeberl DD, et al. J Inherit Metab Dis. 2007 Apr;30(2):159-64. doi: 10.1007/s10545-007-0519-9. Epub 2007 Feb 16. J Inherit Metab Dis. 2007. PMID: 17308886 Free PMC article. Review.
Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. ...This resulted in bro …
Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glyc …
8,657 results