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glycogen storage disease myopathy相关文献:
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS.
Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25.
PMID:36796138
Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.
Pan X, Yuan Y, Wu B, Zheng W, Tian M.
J Int Med Res. 2022 Mar;50(3):3000605221084873. doi: 10.1177/03000605221084873.
PMID:35296144
Metabolic Myopathies.
Tarnopolsky MA.
Continuum (Minneap Minn). 2022 Dec 1;28(6):1752-1777. doi: 10.1212/CON.0000000000001182.
PMID:36537979
Polysaccharide Storage Myopathy.
Firshman AM, Valberg SJ.
Vet Clin North Am Equine Pract. 2025 Apr;41(1):125-137. doi: 10.1016/j.cveq.2024.11.004. Epub 2025 Jan 31.
PMID:39893126
Glycogen storage myopathies.
Tsujino S, Nonaka I, DiMauro S.
Neurol Clin. 2000 Feb;18(1):125-50. doi: 10.1016/s0733-8619(05)70181-x.
PMID:10658171
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED.
J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014.
PMID:37821174
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT.
Ann Intern Med. 1992 Jun 1;116(11):896-900. doi: 10.7326/0003-4819-116-11-896.
PMID:1580445
Glycogen storage disease manifested as gout and myopathy: three case reports and literature review.
Zhang W, Bao CD, Gu YY, Ye S.
Clin Rheumatol. 2008 May;27(5):671-4. doi: 10.1007/s10067-007-0798-4. Epub 2007 Dec 18.
PMID:18092126
Type 2 polysaccharide storage myopathy in Quarter Horses is a novel glycogen storage disease causing exertional rhabdomyolysis.
Valberg SJ, Williams ZJ, Finno CJ, Schultz A, Velez-Irizarry D, Henry ML, Gardner K, Petersen JL.
Equine Vet J. 2023 Jul;55(4):618-631. doi: 10.1111/evj.13876. Epub 2022 Sep 14.
PMID:36102343
Glycogen Debrancher Enzyme Deficiency Myopathy.
Sadeh M, Yosovich K, Dabby R.
J Clin Neuromuscul Dis. 2021 Jun 1;22(4):224-227. doi: 10.1097/CND.0000000000000339.
PMID:34019008
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