The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
GSD
PYGL
carbohydrate metabolism
glycogen storage disease
hepatic cirrhosis
hepatic fibrosis
ketotic GSD
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
03 08 2021
03 08 2021
Historique:
received:
03
07
2021
revised:
27
07
2021
accepted:
01
08
2021
entrez:
27
8
2021
pubmed:
28
8
2021
medline:
12
2
2022
Statut:
epublish
Résumé
Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (
Identifiants
pubmed: 34440378
pii: genes12081205
doi: 10.3390/genes12081205
pmc: PMC8391619
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Références
Am J Hum Genet. 1998 Apr;62(4):785-91
pubmed: 9529348
Rev Int Hepatol. 1959;9(1):35-55
pubmed: 13646331
J Pediatr Endocrinol Metab. 2020 Sep 7;33(10):1321-1333
pubmed: 32892177
J Trop Pediatr. 2004 Aug;50(4):196-202
pubmed: 15357557
Mol Genet Metab Rep. 2021 May 08;27:100770
pubmed: 34026552
Mol Genet Genomic Med. 2019 Nov;7(11):e877
pubmed: 31508908
Mol Genet Metab. 2014 Nov;113(3):171-6
pubmed: 25266922
Diagnostics (Basel). 2020 May 13;10(5):
pubmed: 32414085
Crit Rev Biochem Mol Biol. 1989;24(1):69-99
pubmed: 2667896
Pediatr Int. 2010 Jun;52(3):e150-3
pubmed: 20723115
Mol Genet Metab. 2020 Nov;131(3):299-305
pubmed: 33317799
Mol Genet Genomic Med. 2020 Oct;8(10):e1444
pubmed: 32772503
J Inherit Metab Dis. 2007 Oct;30(5):722-34
pubmed: 17705025
J Mol Diagn. 2020 Dec;22(12):1373-1382
pubmed: 32961316
Genet Med. 2016 Oct;18(10):1037-43
pubmed: 26913919
Hepatol Commun. 2019 Sep 24;3(11):1544-1555
pubmed: 31701076
Transplant Proc. 2011 May;43(4):1181-3
pubmed: 21620082
J Hum Genet. 2013 May;58(5):285-92
pubmed: 23486339
Eur J Pediatr. 2020 Mar;179(3):405-413
pubmed: 31768638
Medicine (Baltimore). 2021 Apr 23;100(16):e25520
pubmed: 33879691