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Cori disease相关文献:
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
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; 1993–2024.
PMID:20301788
French recommendations for the management of glycogen storage disease type III.
Wicker C, Cano A, Decostre V, Froissart R, Maillot F, Perry A, Petit F, Voillot C, Wahbi K, Wenz J, Laforêt P, Labrune P.
Eur J Med Res. 2023 Jul 24;28(1):253. doi: 10.1186/s40001-023-01212-5.
PMID:37488624
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
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.
Gardin A, Rouillon J, Montalvo-Romeral V, Rossiaud L, Vidal P, Launay R, Vie M, Krimi Benchekroun Y, Cosette J, Bertin B, La Bella T, Dubreuil G, Nozi J, Jauze L, Fragnoud R, Daniele N, Van Wittenberghe L, Esque J, André I, Nissan X, Hoch L, Ronzitti G.
J Clin Invest. 2024 Jan 16;134(2):e172018. doi: 10.1172/JCI172018.
PMID:38015640
[Glycogen debranching enzyme deficiency (Forbes-Cori disease)].
Tsujino S.
Ryoikibetsu Shokogun Shirizu. 2001;(36):20-2.
PMID:11596370
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
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P.
Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27.
PMID:21599942
Glycogen storage disease.
Greene HL.
Semin Liver Dis. 1982 Nov;2(4):291-301. doi: 10.1055/s-2008-1040716.
PMID:6763342
[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
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