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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
Phosphorylase Kinase Deficiency.
Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS.
2011 May 31 [updated 2018 Nov 1]. 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:21634085
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
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Fernandes SA, Cooper GE, Gibson RA, Kishnani PS.
Mol Genet Metab. 2020 Nov;131(3):299-305. doi: 10.1016/j.ymgme.2020.10.004. Epub 2020 Oct 10.
PMID:33317799
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