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glycogen storage disease type III相关文献:
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
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
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
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
Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.
Rossiaud L, Fragner P, Barbon E, Gardin A, Benabides M, Pellier E, Cosette J, El Kassar L, Giraud-Triboult K, Nissan X, Ronzitti G, Hoch L.
Front Cell Dev Biol. 2023 May 11;11:1163427. doi: 10.3389/fcell.2023.1163427. eCollection 2023.
PMID:37250895
Dietary management in glycogen storage disease type III: what is the evidence?
Derks TG, Smit GP.
J Inherit Metab Dis. 2015 May;38(3):545-50. doi: 10.1007/s10545-014-9756-x. Epub 2014 Aug 28.
PMID:25164784
Molecular characterization of glycogen storage disease type III.
Shen JJ, Chen YT.
Curr Mol Med. 2002 Mar;2(2):167-75. doi: 10.2174/1566524024605752.
PMID:11949933
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ.
J Inherit Metab Dis. 2020 Jul;43(4):770-777. doi: 10.1002/jimd.12224. Epub 2020 Feb 26.
PMID:32064649
Glycogen storage disease type III: a mixed-methods study to assess the burden of disease.
Evins A, Mayhew J, Cimms T, Whyte J, Vong K, Hribal E, Evans CJ, Grimm A.
Ther Adv Endocrinol Metab. 2024 Jan 8;15:20420188231224233. doi: 10.1177/20420188231224233. eCollection 2024.
PMID:38196773
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?
Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D, Chen YT, Kishnani PS.
J Hepatol. 2007 Mar;46(3):492-8. doi: 10.1016/j.jhep.2006.09.022. Epub 2006 Nov 9.
PMID:17196294
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