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Journal Abstract Search

158 related items for PubMed ID: 35663312

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  • 7. Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant.
    Batool H, Zubaida B, Hashmi MA, Naeem M.
    J Pediatr Endocrinol Metab; 2019 Nov 26; 32(11):1229-1233. PubMed ID: 31473689
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  • 8. An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene.
    Elsayed AK, Al-Khawaga S, Hussain K, Abdelalim EM.
    Stem Cell Res; 2021 Jul 26; 54():102433. PubMed ID: 34171785
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  • 12. SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion.
    Sansbury FH, Flanagan SE, Houghton JA, Shuixian Shen FL, Al-Senani AM, Habeb AM, Abdullah M, Kariminejad A, Ellard S, Hattersley AT.
    Diabetologia; 2012 Sep 26; 55(9):2381-5. PubMed ID: 22660720
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  • 16. Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights.
    Mihout F, Devuyst O, Bensman A, Brocheriou I, Ridel C, Wagner CA, Mohebbi N, Boffa JJ, Plaisier E, Ronco P.
    Nephrol Dial Transplant; 2014 Sep 26; 29 Suppl 4():iv113-6. PubMed ID: 25165176
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  • 17. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
    Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW.
    Hum Genet; 1999 Sep 26; 105(3):240-3. PubMed ID: 10987651
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