Author:
Orenstein Marissa,Barbouth Deborah,Bodamer Olaf A,Weinreb Neal J
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Reference32 articles.
1. Grabowski G, Kolodny E, Weinreb N, Rosenbloom B, Prakash-Cheng A, Kaplan P, Charrow J, Pastores G, Mistry P: Gaucher Disease: Phenotypic and Genetic Variation. The Online Metabolic and Molecular Basis of Inherited Metabolic Disease. Edited by: Scriver C, Beaudet A, Valle D, Slye W. New York: McGraw-Hill Publishers; 2010.http://ommid.mhmedical.com/content.aspx?bookid=474§ionid=45374149,
2. Sidransky E: Heterozygosity for a Mendelian disorder as a risk factor for complex disease. Clin Genet. 2006, 70 (4): 275-282. 10.1111/j.1399-0004.2006.00688.x.
3. Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK: Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood. 2012, 119 (20): 4731-4740. 10.1182/blood-2011-10-386862.
4. Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE: Non-neuronopathic. Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis. 2008, 31: 337-349. 10.1007/s10545-008-0832-y.
5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF: Prevalence of lysosomal storage disorders. JAMA. 1999, 281 (3): 249-254. 10.1001/jama.281.3.249.
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