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Journal Abstract Search

196 related items for PubMed ID: 27103379

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  • 3. [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. PubMed ID: 37248983
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  • 5. 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 Apr 20; 92(1-2):88-99. PubMed ID: 17689125
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  • 15. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
    Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW.
    Hum Genet; 1998 Apr 20; 102(4):423-9. PubMed ID: 9600238
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  • 16. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
    Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C.
    Mol Genet Metab; 2011 Apr 20; 104(1-2):137-43. PubMed ID: 21646031
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  • 17. Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
    Yu J, Ling X, Chen L, Fang Y, Lin H, Lou J, Ren Y, Chen J.
    Clin Genet; 2024 Sep 20; 106(3):267-276. PubMed ID: 38576397
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