首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
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
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
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 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 debranching enzyme deficiency (Forbes-Cori disease)].
Tsujino S.
Ryoikibetsu Shokogun Shirizu. 2001;(36):20-2.
PMID:11596370
Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).
Mishra K, Kakhlon O.
Biomolecules. 2024 Sep 1;14(9):1096. doi: 10.3390/biom14091096.
PMID:39334863
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
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 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
Glycogen storage disease.
Greene HL.
Semin Liver Dis. 1982 Nov;2(4):291-301. doi: 10.1055/s-2008-1040716.
PMID:6763342
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3