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liver phosphorylase deficiency相关文献:
Glycogen accumulation and phase separation drives liver tumor initiation.
Liu Q, Li J, Zhang W, Xiao C, Zhang S, Nian C, Li J, Su D, Chen L, Zhao Q, Shao H, Zhao H, Chen Q, Li Y, Geng J, Hong L, Lin S, Wu Q, Deng X, Ke R, Ding J, Johnson RL, Liu X, Chen L, Zhou D.
Cell. 2021 Oct 28;184(22):5559-5576.e19. doi: 10.1016/j.cell.2021.10.001. Epub 2021 Oct 21.
PMID:34678143
Phosphorylase Kinase Deficiency.
Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS.
2011 May 31 [updated 2018 Nov 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:21634085
Glycogen Storage Disease.
Stone WL, Basit H, Adil A.
2023 May 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID:29083788
Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI.
Wilson LH, Cho JH, Estrella A, Smyth JA, Wu R, Chengsupanimit T, Brown LM, Weinstein DA, Lee YM.
Hepatol Commun. 2019 Sep 24;3(11):1544-1555. doi: 10.1002/hep4.1426. eCollection 2019 Nov.
PMID:31701076
Pleiotropic effects of methionine adenosyltransferases deregulation as determinants of liver cancer progression and prognosis.
Frau M, Feo F, Pascale RM.
J Hepatol. 2013 Oct;59(4):830-41. doi: 10.1016/j.jhep.2013.04.031. Epub 2013 May 7.
PMID:23665184
Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen.
Hug G, Schubert WK, Chuck G.
Science. 1966 Sep 23;153(3743):1534-5. doi: 10.1126/science.153.3743.1534.
PMID:5223147
Phosphorylase kinase deficiency.
Huijing F.
Biochem Genet. 1970 Feb;4(1):187-94. doi: 10.1007/BF00484029.
PMID:5444101
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
Waheed N, Saeed A, Ijaz S, Fayyaz Z, Anjum MN, Zahoor Y, Cheema HA.
J Pediatr Endocrinol Metab. 2020 Sep 25;33(9):1117-1123. doi: 10.1515/jpem-2019-0603.
PMID:32697758
The glycogenoses: von Gierke's disease, acid maltase deficiency, and liver glycogen phosphorylase deficiency.
Field RA.
Am J Clin Pathol. 1968 Jul;50(1):20-8. doi: 10.1093/ajcp/50.1.20.
PMID:4872982
Liver glycogenosis and phosphorylase kinase deficiency.
Hug G, Schubert WK, Chuck G.
Am J Hum Genet. 1970 Jul;22(4):484.
PMID:5270452
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