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glycogen storage disease type IX相关文献:
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
Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance.
Candela E, Montanari G, Zanaroli A, Baronio F, Ortolano R, Biasucci G, Lanari M.
Genes (Basel). 2025 May 15;16(5):584. doi: 10.3390/genes16050584.
PMID:40428406
A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.
Arends CJ, Wilson LH, Estrella A, Kwon OS, Weinstein DA, Lee YM.
Int J Mol Sci. 2022 Sep 1;23(17):9944. doi: 10.3390/ijms23179944.
PMID:36077341
Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.
Beyzaei Z, Ezgu F, Geramizadeh B, Alborzi A, Shojazadeh A.
BMC Pediatr. 2021 Apr 15;21(1):175. doi: 10.1186/s12887-021-02648-6.
PMID:33858366
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.
İnci A, Kılıç Yıldırım G, Cengiz Ergin FB, Sarı S, Eğritaş Gürkan Ö, Okur İ, Biberoğlu G, Bükülmez A, Ezgü FS, Dalgıç B, Tümer L.
J Pediatr Endocrinol Metab. 2022 Jan 17;35(4):451-462. doi: 10.1515/jpem-2021-0278. Print 2022 Apr 26.
PMID:35038814
Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
Kim TH, Kim KY, Kim MJ, Seong MW, Park SS, Moon JS, Ko JS.
Eur J Med Genet. 2020 Jun;63(6):103921. doi: 10.1016/j.ejmg.2020.103921. Epub 2020 Mar 31.
PMID:32244026
[Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX].
Zhang ZH, Zheng BX, Zhuo YJ, Jin Y, Liu ZF, Zheng YC.
Zhonghua Gan Zang Bing Za Zhi. 2023 Apr 20;31(4):428-432. doi: 10.3760/cma.j.cn501113-20220120-00034.
PMID:37248983
Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene.
Khan HH, Parr L, Jay A, Raza S, Lyons H, Kumar S.
Case Rep Pediatr. 2020 Sep 18;2020:8836534. doi: 10.1155/2020/8836534. eCollection 2020.
PMID:33014498
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX.
Ondruskova N, Honzik T, Kolarova H, Pakanova Z, Mucha J, Zeman J, Hansikova H.
Metabolism. 2018 May;82:135-141. doi: 10.1016/j.metabol.2018.01.004. Epub 2018 Feb 2.
PMID:29408683
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M.
Mol Genet Metab. 2007 Sep-Oct;92(1-2):88-99. doi: 10.1016/j.ymgme.2007.06.007. Epub 2007 Aug 3.
PMID:17689125
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