Posts Categorized: Part 03: GENERAL THEMES



Liver transplantation for inborn errors of metabolism

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Part 08: AMINO ACIDS, Part 09: ORGANIC ACIDS.

This articles provides an overview and discussion on an important area of the treatment of inborn errors of metabolism. Transplantation. 2005 Sep 27;80(1 Suppl):S135-7. Liver transplantation for inborn errors of metabolism. Meyburg J, Hoffmann GF.   Thank you very much in advance for your contributions to this blog (Click on login to register and post […]



Treatment strategies for hereditary disorders

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES.

Nature Reviews Genetics 7, 261-276 (April 2006) Focus on: Monogenic disorders Genetic medicines: treatment strategies for hereditary disorders Timothy P. O’Connor and Ronald G. Crystal This great review focuses on the barriers to overcome for the effective treatment of monogenic disorders in the years to come. For more information on the treatment of inherited disorders, […]



RSS feeds

Posted by & filed under Part 03: GENERAL THEMES, Websites.

  Really Simple Syndication (RSS) feeds permit those interested in a blog to receive rapid updates on new posts. For example, when using Mozilla Firefox (www.mozilla.com), drag and drop the orange RSS icon to your links bar; every time you will scroll your mouse over this icon, you will see the most recent posts. You […]



RAMEDIS, the Rare Metabolic Diseases Database

Posted by & filed under Part 03: GENERAL THEMES, Websites.

Ramedis is a web-based information system for inborn errors of metabolism. Clinical information is entered on specific cases by clinicians world-wide, and can be analyzed easily. This makes it a perfect system for studying rare disorders. It now comprises over 700 patients with over 90 disorders. Please visit Ramedis for more information. Philippe Campeau, MD […]



Functional human gene network application

Posted by & filed under Part 03: GENERAL THEMES.

Reconstruction of a Functional Human Gene Network, with an Application for Prioritizing Positional Candidate Genes Lude Franke et al. Am. J. Hum. Genet., 78:1011-1025, 2006 This article describes a computer application which can prove useful to identify candidate genes for complex disoders. Thank you very much in advance for your contributions to this blog. Philippe […]