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Molecular genetics and metabolism journal articles from PubMed MEDLINE database

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1 - 10 of 1893 journal articles in the PubMed databaseEmail to a friend    
 
Ioannidis A, Ikonomi E, Dimou NL, et al. 
Polymorphisms of the insulin receptor and the insulin receptor substrates genes in polycystic ovary syndrome: A Mendelian randomization meta-analysis. [JOURNAL ARTICLE]
Mol Genet Metab 2009 Oct 22.
Abstract | Full Citation
Langford-Smith K, Arasaradnam M, Wraith JE, et al. 
Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. [JOURNAL ARTICLE]
Mol Genet Metab 2009 Oct 23.
Abstract | Full Citation
Boulling A, Le Gac G, Dujardin G, et al. 
The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion. [JOURNAL ARTICLE]
Mol Genet Metab 2009 Oct 23.
Abstract | Full Citation | Find Related Articles 
Gunay-Aygun M, Tuchman M, Font-Montgomery E, et al. 
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. [JOURNAL ARTICLE]
Mol Genet Metab 2009 Oct 20.
Abstract | Full Citation
Rombach SM, Twickler TB, Aerts JM, et al. 
Vasculopathy in patients with Fabry disease: Current controversies and research directions. [JOURNAL ARTICLE]
Mol Genet Metab 2009 Oct 13.
Abstract | Full Citation
Auclair D, Finnie J, White J, et al. 
Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen. [JOURNAL ARTICLE]
Mol Genet Metab 2009 Oct 13.
Abstract | Full Citation | Find Related Articles 
Abstracts of the 11th International Congress of Inborn Errors of Metabolism. [Congresses, Overall]
Mol Genet Metab 2009 Sep-Oct; 98(1-2):1-148.
Full Citation
Lindor NM, Yang P, Evans I, et al. 
Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: A study from the colon cancer family registry. [JOURNAL ARTICLE]
Mol Genet Metab 2009 Sep 27.
Abstract | Full Citation | Find Related Articles 
Weisfeld-Adams JD, Morrissey MA, Kirmse BM, et al. 
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. [JOURNAL ARTICLE]
Mol Genet Metab 2009 Sep 27.
Abstract | Full Citation
Holla OL, Strøm TB, Cameron J, et al. 
A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9. [JOURNAL ARTICLE]
Mol Genet Metab 2009 Sep 27.
Abstract | Full Citation | Publisher Full Text | Find Related Articles 
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