Gaucher Disease

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Xu, C. Gaucher Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/3974 (accessed on 22 September 2026).

Xu C. Gaucher Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/3974. Accessed September 22, 2026.

Xu, Camila. "Gaucher Disease" Encyclopedia, https://encyclopedia.pub/entry/3974 (accessed September 22, 2026).

Xu, C. (2020, December 23). Gaucher Disease. In Encyclopedia. https://encyclopedia.pub/entry/3974

Xu, Camila. "Gaucher Disease." Encyclopedia. Web. 23 December, 2020.

Gaucher Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/gaucher-disease

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues

genetic conditions

References

Beutler E. Gaucher disease: multiple lessons from a single gene disorder. ActaPaediatr Suppl. 2006 Apr;95(451):103-9. Review.
Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I,Sobrino JA, Gonzàlez-Duarte R, Vilageliu L. Unusual expression of Gaucher'sdisease: cardiovascular calcifications in three sibs homozygous for the D409Hmutation. J Med Genet. 1995 Sep;32(9):740-2.
Eblan MJ, Goker-Alpan O, Sidransky E. Perinatal lethal Gaucher disease: adistinct phenotype along the neuronopathic continuum. Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. Review.
George R, McMahon J, Lytle B, Clark B, Lichtin A. Severe valvular and aorticarch calcification in a patient with Gaucher's disease homozygous for the D409Hmutation. Clin Genet. 2001 May;59(5):360-3.
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 JPediatr. 2004 Feb;163(2):58-66.
Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher DiseaseStudy Group. Type 2 Gaucher disease: 15 new cases and review of the literature.Brain Dev. 2006 Jan;28(1):39-48. Review.
Mignot C, Gelot A, De Villemeur TB. Gaucher disease. Handb Clin Neurol.2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. Review.
Pastores GM, Hughes DA. Gaucher Disease. 2000 Jul 27 [updated 2018 Jun 21].In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1269/
Rosenbloom BE, Weinreb NJ. Gaucher disease: a comprehensive review. Crit RevOncog. 2013;18(3):163-75. Review.
Sidransky E. Gaucher disease: insights from a rare Mendelian disorder. Discov Med. 2012 Oct;14(77):273-81. Review.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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