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Journal Abstract Search

197 related items for PubMed ID: 22895100

  • 1. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion.
    Mistry PK, Weinthal JA, Weinreb NJ.
    Clin Adv Hematol Oncol; 2012 Jun; 10(6 Suppl 8):1-16. PubMed ID: 22895100
    [Abstract] [Full Text] [Related]

  • 2. Gaucher disease: from fundamental research to effective therapeutic interventions.
    de Fost M, Aerts JM, Hollak CE.
    Neth J Med; 2003 Jan; 61(1):3-8. PubMed ID: 12688562
    [Abstract] [Full Text] [Related]

  • 3. [Gaucher disease: diagnosis and treatment].
    Fumić K, Stavljenić-Rukavina A, Mrsić M, Potocki K.
    Acta Med Croatica; 2004 Jan; 58(5):353-8. PubMed ID: 15756799
    [Abstract] [Full Text] [Related]

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

  • 5. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention.
    Mistry PK, Sadan S, Yang R, Yee J, Yang M.
    Am J Hematol; 2007 Aug; 82(8):697-701. PubMed ID: 17492645
    [Abstract] [Full Text] [Related]

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

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

  • 8. Gaucher disease: a diagnostic challenge for internists.
    Cassinerio E, Graziadei G, Poggiali E.
    Eur J Intern Med; 2014 Feb; 25(2):117-24. PubMed ID: 24090739
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
    Sobreira E, Pires RF, Cizmarik M, Grabowski GA.
    Mol Genet Metab; 2007 Jan; 90(1):81-6. PubMed ID: 16996765
    [Abstract] [Full Text] [Related]

  • 10. Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder.
    Winter AW, Salimi A, Ospina LH, Roos JCP.
    Br J Ophthalmol; 2019 Mar; 103(3):315-326. PubMed ID: 30612093
    [Abstract] [Full Text] [Related]

  • 11. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.
    Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ.
    Am J Med Genet; 1985 Jul; 21(3):529-49. PubMed ID: 3927728
    [Abstract] [Full Text] [Related]

  • 12. Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease.
    Sinclair GB, Jevon G, Colobong KE, Randall DR, Choy FY, Clarke LA.
    Mol Genet Metab; 2007 Feb; 90(2):148-56. PubMed ID: 17079175
    [Abstract] [Full Text] [Related]

  • 13. 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 Feb; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
    Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A.
    Eur J Pediatr; 2004 Feb; 163(2):58-66. PubMed ID: 14677061
    [Abstract] [Full Text] [Related]

  • 16. Gaucher's disease: a review for the internist and hepatologist.
    Niederau C, Häussinger D.
    Hepatogastroenterology; 2000 Feb; 47(34):984-97. PubMed ID: 11020862
    [Abstract] [Full Text] [Related]

  • 17. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
    Baris HN, Cohen IJ, Mistry PK.
    Pediatr Endocrinol Rev; 2014 Sep; 12 Suppl 1(0 1):72-81. PubMed ID: 25345088
    [Abstract] [Full Text] [Related]

  • 18. Prenatal panel screening considerations for non-neuronopathic Gaucher disease in the Ashkenazi-Jewish population.
    Kannai R, Chertok IR.
    Isr Med Assoc J; 2006 May; 8(5):347-50. PubMed ID: 16805236
    [Abstract] [Full Text] [Related]

  • 19. 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; 48(2):233-7. PubMed ID: 10926300
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
    Lewis BD, Nelson PV, Robertson EF, Morris CP.
    Am J Med Genet; 1994 Jan 15; 49(2):218-23. PubMed ID: 8116672
    [Abstract] [Full Text] [Related]

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