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191 related items for PubMed ID: 16396828

  • 1. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
    Eblan MJ, Goker-Alpan O, Sidransky E.
    Fetal Pediatr Pathol; 2005; 24(4-5):205-22. PubMed ID: 16396828
    [Abstract] [Full Text] [Related]

  • 2. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.
    Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 3. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 4. Perinatal-lethal Gaucher disease presenting as hydrops fetalis.
    BenHamida E, Ayadi I, Ouertani I, Chammem M, Bezzine A, BenTmime R, Attia L, Mrad R, Marrakchi Z.
    Pan Afr Med J; 2015; 21():110. PubMed ID: 26327947
    [Abstract] [Full Text] [Related]

  • 5. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
    Sidransky E, Sherer DM, Ginns EI.
    Pediatr Res; 1992 Oct; 32(4):494-8. PubMed ID: 1437405
    [Abstract] [Full Text] [Related]

  • 6. Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.
    Goebl A, Ferrier RA, Ferreira P, Pinto-Rojas A, Matshes E, Choy FY.
    Pediatr Dev Pathol; 2011 Oct; 14(3):240-3. PubMed ID: 20946052
    [Abstract] [Full Text] [Related]

  • 7. Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
    Stone DL, van Diggelen OP, de Klerk JB, Gaillard JL, Niermeijer MF, Willemsen R, Tayebi N, Sidransky E.
    Eur J Hum Genet; 1999 Oct; 7(4):505-9. PubMed ID: 10352942
    [Abstract] [Full Text] [Related]

  • 8. 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; 63(4):281-8. PubMed ID: 9635296
    [Abstract] [Full Text] [Related]

  • 9. 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 Apr; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 10. Gaucher disease: complexity in a "simple" disorder.
    Sidransky E.
    Mol Genet Metab; 2004 Apr; 83(1-2):6-15. PubMed ID: 15464415
    [Abstract] [Full Text] [Related]

  • 11. Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
    Church HJ, Cooper A, Stewart F, Thornton CM, Wraith JE.
    Eur J Hum Genet; 2004 Nov; 12(11):975-8. PubMed ID: 15292921
    [Abstract] [Full Text] [Related]

  • 12. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
    Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E.
    Pediatr Res; 1998 May; 43(5):571-8. PubMed ID: 9585001
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
    Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E.
    J Pediatr; 2003 Aug; 143(2):273-6. PubMed ID: 12970647
    [Abstract] [Full Text] [Related]

  • 14. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
    Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S.
    Blood Cells Mol Dis; 2007 Aug; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 15. Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease.
    Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Ben Chehida A, Caillaud C, Ben Dridi MF.
    J Perinatol; 2009 Feb; 29(2):170-2. PubMed ID: 19177047
    [Abstract] [Full Text] [Related]

  • 16. Hydrops fetalis: lysosomal storage disorders in extremis.
    Stone DL, Sidransky E.
    Adv Pediatr; 1999 Feb; 46():409-40. PubMed ID: 10645471
    [Abstract] [Full Text] [Related]

  • 17. Perinatal-lethal Gaucher disease.
    Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T.
    Am J Med Genet A; 2003 Jul 30; 120A(3):338-44. PubMed ID: 12838552
    [Abstract] [Full Text] [Related]

  • 18. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
    Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C.
    Eur J Hum Genet; 2002 Sep 30; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 19. [Gaucher disease: clinical, genetic and therapeutic aspects].
    Germain DP.
    Pathol Biol (Paris); 2004 Jul 30; 52(6):343-50. PubMed ID: 15261378
    [Abstract] [Full Text] [Related]

  • 20. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
    Orvisky E, Sidransky E, McKinney CE, Lamarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI.
    Pediatr Res; 2000 Aug 30; 48(2):233-7. PubMed ID: 10926300
    [Abstract] [Full Text] [Related]

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