Author:
Plakkal Nishad,Soraisham Amuchou Singh,Jirapradittha Junya,Pinto-Rojas Alfredo
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Reference9 articles.
1. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Valle D, Sly WS, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 3635.
2. Mignot C, Gelot A, Bessières B, et al. Perinatal-lethal Gaucher disease. Am J Med Genet A. 2003;120:338–44.
3. Eblan MJ, Goker-Alpan O, Sidransky E. Perinatal Lethal Gaucher Disease: a distinct phenotype along the neuronopathic continuum. Fetal Pediatr Pathol. 2005;24(4–5):205–22.
4. Chabás A, Gort L, Díaz-Font A, et al. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. Blood Cells Mol Dis. 2005;35:253–8.
5. Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher Disease. Hum Mutat. 2000;15:181–8.
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