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PUBMED FOR HANDHELDS

Journal Abstract Search


177 related items for PubMed ID: 38605407

  • 21.
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  • 23. Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.
    Tallis E, Karsenty CL, Grimes AB, Karam LB, Elsea SH, Sutton VR, Rawls-Castillo BL, Liu N, Soler-Alfonso C.
    JIMD Rep; 2022 Jul; 63(4):309-315. PubMed ID: 35822097
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  • 25. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
    Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS, American College of Medical Genetics and Genomics.
    Genet Med; 2014 Nov; 16(11):e1. PubMed ID: 25356975
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  • 26. Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy.
    Bock DE, Rupar CA, Prasad C.
    Acta Paediatr; 2011 Sep; 100(9):e130-2. PubMed ID: 21352356
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  • 27. Glycogen storage disease type Ib: role of glucose-6-phosphate transporter in cell metabolism and function.
    Sim SW, Weinstein DA, Lee YM, Jun HS.
    FEBS Lett; 2020 Jan; 594(1):3-18. PubMed ID: 31705665
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  • 29. Glycogen storage disease type Ib: the first case in Taiwan.
    Hsiao HJ, Chang HH, Hwu WL, Lam CW, Lee NC, Chien YH.
    Pediatr Neonatol; 2009 Jun; 50(3):125-8. PubMed ID: 19579760
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  • 30. Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.
    Kaczor M, Wesół-Kucharska D, Greczan M, Kierus K, Kałużny Ł, Duś-Żuchowska M, Ehmke Vel Emczyńska-Seliga E, Ciara E, Książyk J, Rokicki D.
    Pediatr Endocrinol Diabetes Metab; 2022 Jun; 28(3):207-212. PubMed ID: 35620924
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  • 31. Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
    Choi R, Park HD, Ko JM, Lee J, Lee DH, Hong SJ, Ki CS, Lee SY, Kim JW, Song J, Choe YH.
    Ann Lab Med; 2017 May; 37(3):261-266. PubMed ID: 28224773
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  • 32. [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
    Qiu ZQ, Lu CX, Wang W, Qiu JJ, Wei M.
    Zhonghua Er Ke Za Zhi; 2011 Mar; 49(3):203-8. PubMed ID: 21575371
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  • 33. Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation.
    Küçükçongar Yavaş A, Engin Erdal A, Bilginer Gürbüz B, Ünlüsoy Aksu A, Kasapkara ÇS.
    J Pediatr Endocrinol Metab; 2023 Nov 27; 36(11):1092-1099. PubMed ID: 37791580
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  • 34. DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia.
    Dewulf JP, Chevalier N, Marie S, Veiga-da-Cunha M.
    Mol Genet Metab; 2023 Nov 27; 140(3):107712. PubMed ID: 38353183
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  • 35. A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
    Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E.
    Am J Hum Genet; 1998 Oct 27; 63(4):976-83. PubMed ID: 9758626
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  • 36. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.
    Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, Ullrich K, Smit GP.
    J Pediatr; 2000 Aug 27; 137(2):187-91. PubMed ID: 10931410
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  • 37. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
    Matern D, Seydewitz HH, Bali D, Lang C, Chen YT.
    Eur J Pediatr; 2002 Oct 27; 161 Suppl 1():S10-9. PubMed ID: 12373566
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  • 38. Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.
    Chen LY, Shieh JJ, Lin B, Pan CJ, Gao JL, Murphy PM, Roe TF, Moses S, Ward JM, Lee EJ, Westphal H, Mansfield BC, Chou JY.
    Hum Mol Genet; 2003 Oct 01; 12(19):2547-58. PubMed ID: 12925567
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  • 39. Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.
    Oguz MM, Aykan E, Yilmaz G, Aytekin C, Karaer K, Açoğlu EA.
    Genet Couns; 2014 Oct 01; 25(4):389-94. PubMed ID: 25804016
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  • 40. Periodontal Manifestation of Type Ib Glycogen Storage Disease: A Rare Case Report.
    Dababneh R, Shawabkeh A, Gharaibeh S, Khouri ZA, Amayreh W, Bissada NF.
    Clin Adv Periodontics; 2020 Sep 01; 10(3):150-154. PubMed ID: 33460318
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