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中 文 名:
糖原贮积症X型
英 文 名:
glycogen storage disease type X
中文又称:
中文曾称:
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所属专业:
神经内科
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疾病诊断名词
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Pubmed相关的文献
glycogen storage disease type X
相关文献:
Glycogen storage disease type X caused by ochratoxin A in broiler chickens.
PMID:
[One case of X-linked recessive glycogen storage disease type IXa].
PMID:
Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing Panel.
PMID:
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.
Nayab A, Alam Q, Alzahrani OR, Khan R, Sarfaraz S, Albaz AA, Rafeeq MM, Sain ZM, Waqas A, Umair M.
Eur J Med Genet. 2021 Sep;64(9):104283. doi: 10.1016/j.ejmg.2021.104283. Epub 2021 Jul 5.
PMID:34237446
Targeting the Metabolic Enzyme PGAM2 Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting BCL2 Signaling.
Li Z, Ning K, Zhao D, Zhou Z, Zhao J, Long X, Yang Z, Chen D, Cai X, Hong L, Zhang L, Zhou F, Wang J, Li Y.
Cancer Res. 2023 Nov 15;83(22):3753-3766. doi: 10.1158/0008-5472.CAN-23-0308.
PMID:37676279
Glycogen storage disease type X caused by ochratoxin A in broiler chickens.
Warren MF, Hamilton PB.
Poult Sci. 1981 Jan;60(1):120-3. doi: 10.3382/ps.0600120.
PMID:6940112
Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing Panel.
Furuta Y, Phillips JA 3rd.
Cureus. 2024 Sep 25;16(9):e70175. doi: 10.7759/cureus.70175. eCollection 2024 Sep.
PMID:39463617
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.
Koo B, Oskarsson B.
Neuromuscul Disord. 2016 Oct;26(10):688-690. doi: 10.1016/j.nmd.2016.08.002. Epub 2016 Aug 11.
PMID:27612597
Muscle phosphoglycerate mutase deficiency revisited.
Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S.
Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584.
PMID:19273759
Novel heterozygous mutations in the
PGAM2
gene with negative exercise testing.
Sidhu M, Brady L, Vladutiu GD, Tarnopolsky MA.
Mol Genet Metab Rep. 2018 Oct 9;17:53-55. doi: 10.1016/j.ymgmr.2018.09.009. eCollection 2018 Dec.
PMID:30310767
Integrative network-based approaches identified systems-level molecular signatures associated with gallbladder cancer pathogenesis from gallstone diseases.
Roy N, Dihingia BR, Barah P.
J Biosci. 2022;47:31.
PMID:36222131
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