These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 29610006)

  • 1. [Type 3 Gaucher disease, also an adult disease?].
    Leurs A; Chepy A; Detonellaere C; Pascal L; Gallois P; Tran TA; Caillaud C; Hatron PY; Rose C
    Rev Med Interne; 2018 Jul; 39(7):589-593. PubMed ID: 29610006
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The glucocerebrosidase D409H mutation in Gaucher disease.
    Pasmanik-Chor M; Laadan S; Elroy-Stein O; Zimran A; Abrahamov A; Gatt S; Horowitz M
    Biochem Mol Med; 1996 Dec; 59(2):125-33. PubMed ID: 8986634
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapy.
    Michelakakis H; Skardoutsou A; Mathioudakis J; Moraitou M; Dimitriou E; Voudris C; Karpathios T
    Blood Cells Mol Dis; 2002; 28(1):1-4. PubMed ID: 11814305
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.
    Chabás A; Gort L; Montfort M; Castelló F; Domínguez MC; Grinberg D; Vilageliu L
    J Med Genet; 1998 Sep; 35(9):775-7. PubMed ID: 9733040
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.
    Michelakakis H; Moraitou M; Dimitriou E; Santamaria R; Sanchez G; Gort L; Chabas A; Grinberg D; Dassopoulou M; Fotopoulos S; Vilageliu L
    J Inherit Metab Dis; 2006 Aug; 29(4):591. PubMed ID: 16830265
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy].
    Castelló Girona F; Domínguez Luengo C; del Toro Riera M; Chabás Bergon A
    An Esp Pediatr; 2001 Mar; 54(3):310-2. PubMed ID: 11262263
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Gaucher Disease Involving Virchow's Lymph Node: a Case Report.
    Zinovkin DA; Pranjol MZI; Kravchenko D; Kravchenko O; Kudryashov V
    Folia Med (Plovdiv); 2018 Dec; 60(4):647-650. PubMed ID: 31188768
    [TBL] [Abstract][Full Text] [Related]  

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

  • 11. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
    El-Beshlawy A; Tylki-Szymanska A; Vellodi A; Belmatoug N; Grabowski GA; Kolodny EH; Batista JL; Cox GF; Mistry PK
    Mol Genet Metab; 2017; 120(1-2):47-56. PubMed ID: 28040394
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.
    Kör Y; Keskin M; Başpınar O
    Cardiol Young; 2017 Sep; 27(7):1426-1429. PubMed ID: 28393750
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.
    Inui K; Yanagihara K; Otani K; Suzuki Y; Akagi M; Nakayama M; Ida H; Okada S
    J Pediatr; 2001 Jan; 138(1):137-9. PubMed ID: 11148530
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Gaucher disease: A review].
    Nguyen Y; Stirnemann J; Belmatoug N
    Rev Med Interne; 2019 May; 40(5):313-322. PubMed ID: 30638965
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gaucher disease with communicating hydrocephalus and cardiac involvement.
    Cindik N; Ozcay F; Süren D; Akkoyun I; Gökdemir M; Varan B; Alehan F; Ozbek N; Tokel K
    Clin Cardiol; 2010 Jan; 33(1):E26-30. PubMed ID: 19816973
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gaucher disease type 3c: New patients with unique presentations and review of the literature.
    Kurolap A; Del Toro M; Spiegel R; Gutstein A; Shafir G; Cohen IJ; Barrabés JA; Feldman HB
    Mol Genet Metab; 2019 Jun; 127(2):138-146. PubMed ID: 31130326
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Corneal manifestations and in vivo confocal microscopy of Gaucher disease.
    Geens S; Kestelyn P; Claerhout I
    Cornea; 2013 Jul; 32(7):e169-72. PubMed ID: 23635853
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.
    Bulut FD; Kor D; Kılavuz S; Şeker Yılmaz B; Kaplan İ; Ekinci F; Burgaç E; Varol İ; Köşeci B; Tuğ Bozdoğan S; Kara E; Demir F; Deniz A; Temiz F; Önenli Mungan N
    Eur J Med Genet; 2023 Jun; 66(6):104764. PubMed ID: 37061027
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.
    Uyama E; Takahashi K; Owada M; Okamura R; Naito M; Tsuji S; Kawasaki S; Araki S
    Acta Neurol Scand; 1992 Oct; 86(4):407-20. PubMed ID: 1333717
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation.
    George R; McMahon J; Lytle B; Clark B; Lichtin A
    Clin Genet; 2001 May; 59(5):360-3. PubMed ID: 11359469
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.