BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 31898869)

  • 1. 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; 182(4):808-812. PubMed ID: 31898869
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 38(3):287-93. PubMed ID: 17196853
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Seeing beyond Gaucher disease: Early detection and treatment of ocular complications.
    Rani PK; Prabha D; Jakati S; Nalawade R
    Indian J Ophthalmol; 2023 Oct; 71(10):3424-3425. PubMed ID: 37787254
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography.
    Sheck LH; Wilson CJ; Vincent AL
    Ophthalmic Genet; 2012 Dec; 33(4):253-6. PubMed ID: 22950450
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
    Park JK; Orvisky E; Tayebi N; Kaneski C; Lamarca ME; Stubblefield BK; Martin BM; Schiffmann R; Sidransky E
    Pediatr Res; 2003 Mar; 53(3):387-95. PubMed ID: 12595585
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.
    Sawicka-Gutaj N; Machaczka M; Kulińska-Niedziela I; Bernardczyk-Meller J; Gutaj P; Sowiński J; Ruchała M
    Ups J Med Sci; 2016 Aug; 121(3):192-5. PubMed ID: 27064303
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 39(3):348-52. PubMed ID: 17689991
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
    Zimran A; Horowitz M
    Am J Med Genet; 1994 Mar; 50(1):74-8. PubMed ID: 8160756
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.
    Ceravolo F; Grisolia M; Sestito S; Falvo F; Moricca MT; Concolino D
    J Med Case Rep; 2017 Jan; 11(1):19. PubMed ID: 28103924
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A case of traction retinal detachment in a patient with Gaucher disease.
    Watanabe A; Gekka T; Arai K; Tsuneoka H
    Ophthalmic Genet; 2017; 38(3):273-276. PubMed ID: 27429014
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.
    Gumus E; Karhan AN; Hizarcioglu-Gulsen H; Demir H; Ozen H; Saltik Temizel IN; Dokmeci Emre S; Yuce A
    Eur J Med Genet; 2021 Nov; 64(11):104339. PubMed ID: 34500086
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.
    Michelakakis H; Dimitriou E; Van Weely S; Boot RG; Mavridou I; Verhoek M; Aerts JM
    J Inherit Metab Dis; 1995; 18(5):609-15. PubMed ID: 8598642
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [A retrospective study on enzyme replacement therapy in patients with Gaucher disease].
    Duan YL; Zhang YH; Zang Y; Shi HP; Zhang WM; Hu YM
    Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):653-6. PubMed ID: 17217655
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients.
    El-Beshlawy A; Ragab L; Youssry I; Yakout K; El-Kiki H; Eid K; Mansour IM; Abd El-Hamid S; Yang M; Mistry PK
    J Inherit Metab Dis; 2006 Feb; 29(1):92-8. PubMed ID: 16601874
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades.
    Hopf S; Pfeiffer N; Liesenfeld M; Mengel KE; Hennermann JB; Schmidtmann I; Pitz S
    Orphanet J Rare Dis; 2019 Nov; 14(1):257. PubMed ID: 31727115
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel point mutation (W184R) in neonatal type 2 Gaucher disease.
    Choy FY; Wong K; Vallance HD; Baldwin V
    Pediatr Dev Pathol; 2000; 3(2):180-3. PubMed ID: 10679038
    [TBL] [Abstract][Full Text] [Related]  

  • 18. High-risk screening for Gaucher disease in patients with neurological symptoms.
    Momosaki K; Kido J; Matsumoto S; Yoshida S; Takei A; Miyabayashi T; Sugawara K; Endo F; Nakamura K
    J Hum Genet; 2018 Jun; 63(6):717-721. PubMed ID: 29602947
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
    Gupta N; Oppenheim IM; Kauvar EF; Tayebi N; Sidransky E
    Blood Cells Mol Dis; 2011 Jan; 46(1):75-84. PubMed ID: 20880730
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
    Emre S; Gürakan F; Yüce A; Rolf A; Scott R; Ozen H
    Eur J Med Genet; 2008; 51(4):315-21. PubMed ID: 18586596
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.