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 NCBI Filters

Results by year

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

Year Number of Results
1975 1
1976 1
1979 1
1986 1
1988 1
1993 1
1996 1
1998 2
2007 1
2010 1
2014 1
2015 1
2017 1
2019 2
2020 6
2021 3
2022 4
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

28 results

Results by year

Filters applied: . Clear all
Page 1
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX. Kishnani PS, et al. Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19. Genet Med. 2019. PMID: 30659246 Free article.
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.
A patient with two clinically rare diseases, namely, sitosterolemia and glycogen storage disease type VI (GSD VI)), is reported here for the first time. ...
A patient with two clinically rare diseases, namely, sitosterolemia and glycogen storage disease type VI …
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. ...
Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due t …
Glycogen storage disease type VI: clinical course and molecular background.
Aeppli TR, Rymen D, Allegri G, Bode PK, Häberle J. Aeppli TR, et al. Eur J Pediatr. 2020 Mar;179(3):405-413. doi: 10.1007/s00431-019-03499-1. Epub 2019 Nov 26. Eur J Pediatr. 2020. PMID: 31768638
Glycogen storage disease type VI (GSD-VI; also known as Hers disease, liver phosphorylase deficiency) is caused by mutations in the gene coding for glycogen phosphorylase (PYGL) leading to a defect in the degradation of glycogen. ...While outcom …
Glycogen storage disease type VI (GSD-VI; also known as Hers disease, liver phosphorylase deficiency) is …
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. ...
Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage dis …
28 results