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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, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:21634085
Glycogen Storage Disease.
John TA, Anastasopoulou C.
2025 Jan 21. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–.
PMID:29083788
Liver glycogen phosphorylase deficiency.
Drummond GI, Hardwick DF, Israels S.
Can Med Assoc J. 1970 Apr 11;102(7):740-2.
PMID:5439332
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
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
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 due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW.
Hum Mol Genet. 1998 Jan;7(1):149-54. doi: 10.1093/hmg/7.1.149.
PMID:9384616
Glycogen storage diseases.
Hug G.
Birth Defects Orig Artic Ser. 1976;12(6):145-75.
PMID:788807
Liver glycogenosis and phosphorylase kinase deficiency.
Huijing F, Fernandes J.
Am J Hum Genet. 1970 Jul;22(4):484-5.
PMID:5270453
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