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

Year Number of Results
1964 1
1968 1
1976 1
1978 1
1979 1
1980 2
1981 2
1982 1
1983 1
1984 1
1986 1
1988 1
1989 2
1990 4
1991 1
1992 1
1993 4
1996 3
1998 2
1999 4
2000 1
2001 1
2002 1
2003 1
2005 1
2006 1
2007 1
2008 1
2009 2
2010 4
2011 2
2013 2
2014 2
2018 2
2019 1
2021 2
2024 0

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58 results

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Page 1
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. ...Type VI and IX are a heterogeneous group of diseases caused by a deficiency of the liver phosphorylase and phosphorylase kinase system. ...
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...Type VI and IX are a heterogeneou
Pleiotropic effects of methionine adenosyltransferases deregulation as determinants of liver cancer progression and prognosis.
Frau M, Feo F, Pascale RM. Frau M, et al. J Hepatol. 2013 Oct;59(4):830-41. doi: 10.1016/j.jhep.2013.04.031. Epub 2013 May 7. J Hepatol. 2013. PMID: 23665184 Free article. Review.
SAM administration to carcinogen-treated rats prevents hepatocarcinogenesis, whereas MAT1A-KO mice, characterized by chronic SAM deficiency, exhibit macrovesicular steatosis, mononuclear cell infiltration in periportal areas, and HCC development. ...
SAM administration to carcinogen-treated rats prevents hepatocarcinogenesis, whereas MAT1A-KO mice, characterized by chronic SAM deficien
Muscle glycogenosis.
Moses SW. Moses SW. J Inherit Metab Dis. 1990;13(4):452-65. doi: 10.1007/BF01799503. J Inherit Metab Dis. 1990. PMID: 2122112 Review.
This review describes clinical, biochemical and genetic features of the four inborn errors affecting muscle glycogen breakdown, namely deficiencies of phosphorylase, phosphorylase kinase, amylo-1,6-glucosidase and acid alpha-glucosidase. ...In …
This review describes clinical, biochemical and genetic features of the four inborn errors affecting muscle glycogen breakdown, namel …
Metabolic myopathies.
Tein I. Tein I. Semin Pediatr Neurol. 1996 Jun;3(2):59-98. doi: 10.1016/s1071-9091(96)80038-6. Semin Pediatr Neurol. 1996. PMID: 8795843 Review.
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrog …
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, …
Myopathies Related to Glycogen Metabolism Disorders.
Tarnopolsky MA. Tarnopolsky MA. Neurotherapeutics. 2018 Oct;15(4):915-927. doi: 10.1007/s13311-018-00684-2. Neurotherapeutics. 2018. PMID: 30397902 Free PMC article. Review.
Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in glycogenolysis (myophosphorylase (PYGM), glycogen debranching enzyme (AGL), phosphorylase b kinase (PHKB)) and glycolysis (phosphofructokinase (PFK), phosphoglycer …
Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in glycogenolysis (myophosphorylase (PYGM), …
The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
Grünert SC, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Genes (Basel). 2021 Aug 3;12(8):1205. doi: 10.3390/genes12081205. Genes (Basel). 2021. PMID: 34440378 Free PMC article. Review.
Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (PYGL), resulting in a deficiency of hepatic glycogen phosphorylase. We perform
Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the
Glycogen storage diseases.
Hug G. Hug G. Birth Defects Orig Artic Ser. 1976;12(6):145-75. Birth Defects Orig Artic Ser. 1976. PMID: 788807 Review.
The in vivo administration of glucagon in GSD XI is followed by the normal increase of both urinary 3'5'-AMP and hepatic phosphorylase activity. GSD V may have increased activity of muscle phosphorylase kinase. Deficiencies of debrancher, liver phos
The in vivo administration of glucagon in GSD XI is followed by the normal increase of both urinary 3'5'-AMP and hepatic phosphorylase
Neonatal metabolic myopathies.
Tein I. Tein I. Semin Perinatol. 1999 Apr;23(2):125-51. doi: 10.1016/s0146-0005(99)80046-9. Semin Perinatol. 1999. PMID: 10331465 Review.
Although metabolic myopathies are inherited disorders that present from birth and may present with subtle to marked neonatal hypotonia, a number of these defects are diagnosed classically in childhood, adolescence, or adulthood. Disorders of glycogen, lipid, or mitochondri …
Although metabolic myopathies are inherited disorders that present from birth and may present with subtle to marked neonatal hypotonia, a nu …
Phosphorylase b kinase deficiency in man: a review.
Van den Berg IE, Berger R. Van den Berg IE, et al. J Inherit Metab Dis. 1990;13(4):442-51. doi: 10.1007/BF01799501. J Inherit Metab Dis. 1990. PMID: 2122111 Review.
Phosphorylase b kinase is involved in the activation of glycogen phosphorylase and is thus involved in the breakdown of glycogen. ...Seven different clinical types of phosphorylase b kinase deficiency have been described. Th
Phosphorylase b kinase is involved in the activation of glycogen phosphorylase and is thus involved in the break
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).
Quinlivan R, Martinuzzi A, Schoser B. Quinlivan R, et al. Cochrane Database Syst Rev. 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. Cochrane Database Syst Rev. 2010. PMID: 21154353 Updated. Review.
BACKGROUND: McArdle disease (Glycogen Storage Disease type V) is caused by an absence of muscle phosphorylase leading to exercise intolerance, myoglobinuria rhabdomyolysis and acute renal failure. ...SEARCH STRATEGY: We searched the Cochrane Neuromuscular Disease Gr …
BACKGROUND: McArdle disease (Glycogen Storage Disease type V) is caused by an absence of muscle phosphorylase leading to exerc …
58 results