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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
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2000 129
2001 127
2002 144
2003 119
2004 115
2005 118
2006 150
2007 196
2008 216
2009 212
2010 233
2011 234
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2013 267
2014 255
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2016 253
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Page 1
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
Update on glycogen storage disease: primary hepatic involvement.
Wright TLF, Umaña LA, Ramirez CM. Wright TLF, et al. Curr Opin Pediatr. 2022 Oct 1;34(5):496-502. doi: 10.1097/MOP.0000000000001158. Epub 2022 Aug 3. Curr Opin Pediatr. 2022. PMID: 35942643 Review.
PURPOSE OF REVIEW: Glycogen storage disease is a group of disorders primarily characterized by hepatomegaly and fasting hypoglycemia. ...With an overall prevalence of 1 : 20 000, GSDs are disorders that clinicians should diagnose in a timely manner because ad …
PURPOSE OF REVIEW: Glycogen storage disease is a group of disorders primarily characterized by hepatomegaly and fasting …
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 diseases: new perspectives.
Ozen H. Ozen H. World J Gastroenterol. 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541. World J Gastroenterol. 2007. PMID: 17552001 Free PMC article. Review.
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...There are over 12 types and they are classified based on the enzyme deficiency and the affected tissue. Disorders of glycogen degradation may affect primarily
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...There are over 12 types an
Biochemical and clinical aspects of glycogen storage diseases.
Ellingwood SS, Cheng A. Ellingwood SS, et al. J Endocrinol. 2018 Sep;238(3):R131-R141. doi: 10.1530/JOE-18-0120. Epub 2018 Jun 6. J Endocrinol. 2018. PMID: 29875163 Free PMC article. Review.
In this review, we provide a basic summary on glycogen metabolism and some of the clinical aspects of the classical glycogen storage diseases. Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, k …
In this review, we provide a basic summary on glycogen metabolism and some of the clinical aspects of the classical glycogen
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A. Massese M, et al. Orphanet J Rare Dis. 2022 Jun 20;17(1):241. doi: 10.1186/s13023-022-02387-6. Orphanet J Rare Dis. 2022. PMID: 35725468 Free PMC article. Review.
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, d …
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, de …
Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.
Pan X, Yuan Y, Wu B, Zheng W, Tian M. Pan X, et al. J Int Med Res. 2022 Mar;50(3):3000605221084873. doi: 10.1177/03000605221084873. J Int Med Res. 2022. PMID: 35296144 Free PMC article. Review.
A second muscle biopsy suggested metabolic myopathy, and genetic testing revealed a novel c.1074C > T variant in the glycogen synthase 1 gene (GYS1), which is implicated in muscle glycogen storage disease type 0. However, no abnormalities in glyc
A second muscle biopsy suggested metabolic myopathy, and genetic testing revealed a novel c.1074C > T variant in the glycogen synt …
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS. Shin YS. Semin Pediatr Neurol. 2006 Jun;13(2):115-20. doi: 10.1016/j.spen.2006.06.007. Semin Pediatr Neurol. 2006. PMID: 17027861 Review.
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and divided into types 0 to X. ...GSD type III, amylo-1,6-glucosidase deficiency, is subdivided into 6 forms. GSD type IV, Andersen
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and
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
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH, do Valle DA, Santos MLSF, Telles BA, Cordeiro ML. Muzetti JH, et al. Front Endocrinol (Lausanne). 2021 May 21;12:685272. doi: 10.3389/fendo.2021.685272. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34093448 Free PMC article.
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. ...The criteria of adequate metabolic control were adopted based on the European Study on Glycogen Storage Disease type I
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. ..
8,181 results