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References
These sources were used to develop the Genetics Home Reference
condition summary
on Gaucher disease.
Beutler E. Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl. 2006 Apr;95(451):103-9. Review.
PubMed citation
Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzŕlez-Duarte R, Vilageliu L. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. J Med Genet. 1995 Sep;32(9):740-2.
PubMed citation
Eblan MJ, Goker-Alpan O, Sidransky E. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum. Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. Review.
PubMed citation
Enderlin C, Vogel R, Conaway P. Gaucher disease. Am J Nurs. 2003 Dec;103(12):50-60; quiz 61. Review.
PubMed citation
Gene Review: Gaucher
Disease
George R, McMahon J, Lytle B, Clark B, Lichtin A. Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. Clin Genet. 2001 May;59(5):360-3.
PubMed citation
Germain DP. Gaucher's disease: a paradigm for interventional genetics. Clin Genet. 2004 Feb;65(2):77-86. Review.
PubMed citation
Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr. 2004 Feb;163(2):58-66. Epub 2003 Dec 16. Review.
PubMed citation
Grabowski GA. Recent clinical progress in Gaucher disease. Curr Opin Pediatr. 2005 Aug;17(4):519-24. Review.
PubMed citation
Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol. 2005 Apr;129(2):178-88. Review.
PubMed citation
Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher Disease Study Group. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev. 2006 Jan;28(1):39-48. Review.
PubMed citation
Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. Review.
PubMed citation
Reviewed: January 2008
Published: May 20, 2013
Indicates a page outside Genetics Home Reference.