Literature DB >> 20818846

New therapeutic approaches to mendelian disorders.

Harry C Dietz1.   

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Year:  2010        PMID： 20818846     DOI： 10.1056/NEJMra0907180

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  34 in total

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5.  Alkaptonuria: leading to the treasure in exceptions.

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6.  Enzyme enhancers for the treatment of Fabry and Pompe disease.

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Review 7.  Genetics of human cardiovascular disease.

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8.  FBN1 isoform expression varies in a tissue and development-specific fashion.

Authors:  Mary E Burchett; I-Fang Ling; Steven Estus
Journal:  Biochem Biophys Res Commun       Date:  2011-06-25       Impact factor: 3.575

Review 9.  Genetic architecture of colorectal cancer.

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Journal:  Gut       Date:  2015-07-17       Impact factor: 23.059

10.  Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment.

Authors:  L Morrissey; C A Tiernan; D Lambert; E O'Reilly; E P Treacy
Journal:  Ir J Med Sci       Date:  2013-03-23       Impact factor: 1.568
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