A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-019-0789-8.pdf
Reference12 articles.
1. Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, et al. Glycogen storage disease type IX: high variability in clinical phenotype. Mol Genet Metab. 2007;92(1–2):88–99.
2. Kim JA, Kim JH, Lee BH, Kim GH, Shin YS, Yoo HW, Kim KM. Clinical, biochemical, and genetic characterization of glycogen storage type IX in a child with asymptomatic hepatomegaly. Pediatr Gastroenterol Hepatol Nutr. 2015;18(2):138–43.
3. Tsilianidis LA, Fiske LM, Siegel S, Lumpkin C, Hoyt K, Wasserstein M, Weinstein DA. Aggressive therapy improves cirrhosis in glycogen storage disease type IX. Mol Genet Metab. 2013;109(2):179–82.
4. Maichele AJ, Burwinkel B, Maire I, Sovik O, Kilimann MW. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat Genet. 1996;14(3):337–40.
5. Hendrickx J, Dams E, Coucke P, Lee P, Fernandes J, Willems PJ. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. Hum Mol Genet. 1996;5(5):649–52.
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