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glycogen storage disease相关文献:
Glycogen storage diseases.
Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J.
Nat Rev Dis Primers. 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z.
PMID:37679331
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
Glycogen storage diseases: An update.
Gümüş E, Özen H.
World J Gastroenterol. 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932.
PMID:37476587
Update on glycogen storage disease: primary hepatic involvement.
Wright TLF, Umaña LA, Ramirez CM.
Curr Opin Pediatr. 2022 Oct 1;34(5):496-502. doi: 10.1097/MOP.0000000000001158. Epub 2022 Aug 3.
PMID:35942643
Glycogen storage disease.
Kannourakis G.
Semin Hematol. 2002 Apr;39(2):103-6. doi: 10.1053/shem.2002.31920.
PMID:11957192
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A.
Orphanet J Rare Dis. 2022 Jun 20;17(1):241. doi: 10.1186/s13023-022-02387-6.
PMID:35725468
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
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS.
Semin Pediatr Neurol. 2006 Jun;13(2):115-20. doi: 10.1016/j.spen.2006.06.007.
PMID:17027861
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH, do Valle DA, Santos MLSF, Telles BA, Cordeiro ML.
Front Endocrinol (Lausanne). 2021 May 21;12:685272. doi: 10.3389/fendo.2021.685272. eCollection 2021.
PMID:34093448
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX.
Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19.
PMID:30659246
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