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Cori disease相关文献:
Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy.
Colella P.
Mol Diagn Ther. 2024 Nov;28(6):703-719. doi: 10.1007/s40291-024-00733-x. Epub 2024 Aug 12.
PMID:39134822
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG.
Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6.
PMID:20631546
Gene therapy for glycogen storage diseases.
Koeberl DD, Koch RL, Lim JA, Brooks ED, Arnson BD, Sun B, Kishnani PS.
J Inherit Metab Dis. 2024 Jan;47(1):93-118. doi: 10.1002/jimd.12654. Epub 2023 Jul 27.
PMID:37421310
[Glycogen debranching enzyme deficiency (Forbes-Cori disease)].
Tsujino S.
Ryoikibetsu Shokogun Shirizu. 2001;(36):20-2.
PMID:11596370
Pharmacological Chaperone Therapy for Pompe Disease.
Borie-Guichot M, Tran ML, Génisson Y, Ballereau S, Dehoux C.
Molecules. 2021 Nov 29;26(23):7223. doi: 10.3390/molecules26237223.
PMID:34885805
Glycogen Storage Disease Type III.
Schreuder AB, Rossi A, Grünert SC, Derks TGJ.
2010 Mar 9 [updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301788
[Forbes-Cori disease: reversible worsening in a case with non-evolutive neuromuscular disorder].
Martínez Matos JA, Vila Duplá MJ, Montero J, Ferrer I, Baguñá J, Peres Serra J.
Neurologia. 1987 Mar-Apr;2(2):75-80.
PMID:3078946
Glycogen storage disease type III: the phenotype branches out.
Haller RG.
Neurology. 2015 Apr 28;84(17):1726-7. doi: 10.1212/WNL.0000000000001532. Epub 2015 Apr 1.
PMID:25832667
Spectrum of metabolic myopathies.
Angelini C.
Biochim Biophys Acta. 2015 Apr;1852(4):615-21. doi: 10.1016/j.bbadis.2014.06.031. Epub 2014 Jul 2.
PMID:24997454
Glycogen storage disease.
Greene HL.
Semin Liver Dis. 1982 Nov;2(4):291-301. doi: 10.1055/s-2008-1040716.
PMID:6763342
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