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Year Number of Results
1975 1
1976 2
1979 1
1980 1
1988 1
1993 3
1998 1
2006 1
2007 2
2011 1
2012 1
2013 1
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2019 1
2020 4
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2022 2
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Page 1
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. ...However, some patients can exhibit a more severe phenotype and an important progression of the liv …
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and …
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. ...The disease in general is progressive to cirrhosis. Type VI and IX are a heterogeneous group of diseases caused by a deficiency of the liver phos
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...The disease in gene
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 phosphoryla
Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen me
Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
Lu SQ, Feng JY, Liu J, Xie XB, Lu Y, Abuduxikuer K. Lu SQ, et al. J Pediatr Endocrinol Metab. 2020 Sep 7;33(10):1321-1333. doi: 10.1515/jpem-2020-0173. J Pediatr Endocrinol Metab. 2020. PMID: 32892177 Free article. Review.
Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage disease type VI (GSD VI), especially in Chinses population. ...Conclusions Our study enriched the genotypic and phenot …
Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage dis
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.
Each of 12 types of glycogen storage disease (GSD O-XI) is delineated by clinical, biochemical and histologic features that allow its identification in future patients. ...GSD IIa is the infantile fatal form with cardiomegaly, increased cardiac glycogen
Each of 12 types of glycogen storage disease (GSD O-XI) is delineated by clinical, biochemical and histologic features …
Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
Zhan Q, Lv Z, Tang Q, Huang L, Chen X, Yang M, Lan L, Shan Q. Zhan Q, et al. Medicine (Baltimore). 2021 Apr 23;100(16):e25520. doi: 10.1097/MD.0000000000025520. Medicine (Baltimore). 2021. PMID: 33879691 Free PMC article. Review.
RATIONALE: Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase. ...The different degrees of elevated lactate is an unusual phenotype in GSD VI patients. It is not clear …
RATIONALE: Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited defici …
Features of chinese patients with sitosterolemia.
Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X. Zhou Z, et al. Lipids Health Dis. 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. Lipids Health Dis. 2022. PMID: 35042526 Free PMC article. Review.
To gain a better understanding of the disease, the current status of diagnosis and treatment of Chinese patients with sitosterolemia was reviewed and summarized. ...A patient with two clinically rare diseases, namely, sitosterolemia and glycogen storage di
To gain a better understanding of the disease, the current status of diagnosis and treatment of Chinese patients with sitosterolemia …
Treating lysosomal storage disorders: What have we learnt?
Lachmann RH. Lachmann RH. J Inherit Metab Dis. 2020 Jan;43(1):125-132. doi: 10.1002/jimd.12131. Epub 2019 Jun 26. J Inherit Metab Dis. 2020. PMID: 31140601 Review.
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of experience of treating patients with type 1 Gaucher disease. ...We now have more than 10 years of clinical experience …
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 y …
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.
GSD type IV, Andersen disease or amylopectinosis, is caused by deficiency of the glycogen-branching enzyme in numerous forms. ...GSD type VI is characterized by liver phosphorylase deficiency. GSD type VII, phosphofructokinase deficiency, …
GSD type IV, Andersen disease or amylopectinosis, is caused by deficiency of the glycogen-branching enzyme in numerous …
Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.
Beyzaei Z, Geramizadeh B, Karimzadeh S. Beyzaei Z, et al. Orphanet J Rare Dis. 2020 Oct 14;15(1):286. doi: 10.1186/s13023-020-01573-8. Orphanet J Rare Dis. 2020. PMID: 33054851 Free PMC article. Review.
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. ...Publications were included in the review if they analyzed GSDs with hepatic involvement (GSD I, GSD III, GSD IV, GSD VI, GSD IX), using t …
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. ...Publ …
25 results