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Journal Abstract Search

166 related items for PubMed ID: 21982627

  • 1. Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
    Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E.
    Mol Genet Metab; 2011 Dec; 104(4):631-6. PubMed ID: 21982627
    [Abstract] [Full Text] [Related]

  • 2. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.
    Sidransky E, Fartasch M, Lee RE, Metlay LA, Abella S, Zimran A, Gao W, Elias PM, Ginns EI, Holleran WM.
    Pediatr Res; 1996 Jan; 39(1):134-41. PubMed ID: 8825398
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  • 3. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.
    Holleran WM, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney CE, Elias PM, Sidransky E.
    J Clin Invest; 1994 Apr; 93(4):1756-64. PubMed ID: 8163674
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  • 4. Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.
    Fujimoto A, Tayebi N, Sidransky E.
    Am J Med Genet; 1995 Nov 20; 59(3):356-8. PubMed ID: 8599361
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  • 5. Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice.
    Doering T, Proia RL, Sandhoff K.
    FEBS Lett; 1999 Mar 26; 447(2-3):167-70. PubMed ID: 10214939
    [Abstract] [Full Text] [Related]

  • 6. [Clinical phenotype and genotype of Gaucher disease in 14 children].
    Sun XY, Xue Y, Wang YP, Huang J, Lin RF, Kang MY, Fang YJ.
    Zhonghua Er Ke Za Zhi; 2022 Jun 02; 60(6):527-532. PubMed ID: 35658357
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  • 7. Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.
    Haverkaemper S, Marquardt T, Hausser I, Timme K, Kuehn T, Hertzberg C, Rossi R.
    Neonatology; 2011 Jun 02; 100(2):194-7. PubMed ID: 21455010
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  • 8. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
    Sheth J, Pancholi D, Mistri M, Nath P, Ankleshwaria C, Bhavsar R, Puri R, Phadke S, Sheth F.
    BMC Med Genet; 2018 Oct 01; 19(1):178. PubMed ID: 30285649
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  • 11. Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
    Lepe-Balsalobre E, Santotoribio JD, Nuñez-Vazquez R, García-Morillo S, Jiménez-Arriscado P, Hernández-Arévalo P, Delarosa-Rodríguez R, Guerrero JM, Macher HC.
    Clin Chem Lab Med; 2020 Jun 25; 58(12):2017-2024. PubMed ID: 32589593
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  • 12. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
    Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S.
    J Inherit Metab Dis; 2008 Dec 25; 31(6):738-44. PubMed ID: 18979180
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  • 13. Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).
    Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C, Guerrini R.
    Epilepsia; 2004 Sep 25; 45(9):1154-7. PubMed ID: 15329082
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  • 14. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.
    Blood Cells Mol Dis; 2007 Sep 25; 38(3):287-93. PubMed ID: 17196853
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  • 15. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
    Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E.
    Mol Genet Metab; 1998 Apr 25; 63(4):281-8. PubMed ID: 9635296
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  • 16. Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling.
    Sidransky E, Tayebi N, Ginns EI.
    Clin Pediatr (Phila); 1995 Jul 25; 34(7):365-71. PubMed ID: 7554686
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  • 17. White vitreous opacities in five patients with Gaucher disease type 3.
    Seehra GK, Eghbali A, Sidransky E, FitzGibbon E.
    Am J Med Genet A; 2020 Apr 25; 182(4):808-812. PubMed ID: 31898869
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  • 18. A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
    Aflaki E, Borger DK, Moaven N, Stubblefield BK, Rogers SA, Patnaik S, Schoenen FJ, Westbroek W, Zheng W, Sullivan P, Fujiwara H, Sidhu R, Khaliq ZM, Lopez GJ, Goldstein DS, Ory DS, Marugan J, Sidransky E.
    J Neurosci; 2016 Jul 13; 36(28):7441-52. PubMed ID: 27413154
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  • 20. [Molecular diagnosis of Gaucher disease in Tunisia].
    Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Amaral O, Sá Miranda MC, Caillaud C, Kaabachi N, Tebib N, Abdelhak S, Ben Dridi MF.
    Pathol Biol (Paris); 2013 Apr 13; 61(2):59-63. PubMed ID: 22542428
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