fiery-joy.blogspot.com
You are my JOY: June 2015
http://fiery-joy.blogspot.com/2015_06_01_archive.html
You are my JOY. My journey to JOY despite depression, special needs and health mysteries. Follow me on Twitter. Tuesday, June 30, 2015. Evening at the Creek. I love it when my Hunny surprises us! He called from work to instruct me to have the kids fed and ready to go out as soon as he got home, and that's all he said! Our evening consisted of going for a walk around Williams Park. And splashing in the creek! Especially for Bryn, who was first to get into the water, of course! It's a tiring job! It's funn...
integralgenomics.org
Genetic and Genomic Testing
http://www.integralgenomics.org/physician-information
Connecting BC Physicians with Genomics Information. Genomics Glossary of Terms. Genomics Frequently Asked Questions (FAQ). Taking a Family History. Genetic and Genomic Testing. Common genetic tests that family physicians will encounter in their practice generally can be described by the following categories: genomic testing, targeted diagnostic (gene) testing for general genetic or cancer syndromes, and metabolic testing. Genomic sequencing identifies if there are very small changes in the DNA sequence&#...
treatable-id.org
Disclaimer
http://www.treatable-id.org/page93/disclaimer.html
An interactive tool for the clinician. Literature reporting on metabolic diseases causing Intellectual Disability is complicated and vast, with continuous expansion of insight into pheno- and genotypic presentation as well as therapeutics. The translation of this knowledge and data into the current website required simplification and therefore inconsistencies may have occurred. Treatable-ID makes no warranties of any kind regarding, but not limited to, the accuracy, completeness, timeliness or reliabilit...
treatable-id.org
Sitemap
http://www.treatable-id.org/page4/index.html
An interactive tool for the clinician. Biotin Responsive Basal Ganglia Disease. Cerebral Folate Receptor-α Deficiency. Congenital Intrinsic Factor Deficiency. Hurler Syndrome (MPS I). 3-Methylglutaconic Aciduria Type I. Molybdenum Cofactor Deficiency Type A. Niemann Pick Disease Type C. PHGDH Deficiency (Serine deficiency). PSAT Deficiency (Serine deficiency). PSPH Deficiency (Serine deficiency). Sanfilippo Syndrome A (MPS IIIa). Sanfilippo Syndrome B (MPS IIIb). Sanfilippo Syndrome C (MPS IIIc).
treatable-id.org
Treatment
http://www.treatable-id.org/page87/Treatment.html
An interactive tool for the clinician. Table 1. Definitions and Remarks for Therapy Buttons (button name: Definitions). Intervention(s) to guarantee sufficient fluid and caloric intake to maintain anabolic state, plus continuation / modification of disease specific therapy. For the Levels of Evidence. We took the ‘Oxford Centre for Evidence Based Medicine Levels of Evidence 2009’ approach in ‘best available’ fashion to the relevant peer-reviewed literature. Treatment is initiated either as:. For each tre...
treatable-id.org
Diseases
http://www.treatable-id.org/page0/diseases.html
An interactive tool for the clinician. Our systematic literature review (performed according to Cochrane methodology) identified 81 metabolic diseases which are causally related to Intellectual Disability and amenable to treatment. These are presented in 15 biochemical categories according to accepted nomenclature and/or pathophysiology. Overview of 81 diseases presented in 15 biochemical categories. CLICK HERE for more INFORMATION.
pdeonline.org
Members of the PDE consortium
http://www.pdeonline.org/team.html
We look forward to collaborating with clinicians, scientists and families around the world to improve health outcome of individuals affected by PDE. If you are interested to join us or your name is not on the list while it should be, please email us via the contact form below:. Members of the PDE Consortium:. Orange County, USA. Bruce A Barshop -. San Diego, California, USA. Veldhoven, The Netherlands. Jean Paul Collet -. Aurora, Colorado USA. Michael S Duchowny -. Paul Graham Fisher -. Andrea L Gropman -.
mdapp.org
About | Metabolic Diet App
http://www.mdapp.org/about.html
Division of Biochemical Diseases, BC Children’s Hospital, University of British Columbia, Vancouver. Keiko Ueda, MPH, RD. Barbara Cheng, RD. Alette Giezen, RD. Gloria Ho, BSc. Roderick Houben, HealtH2Media. Jeff Joa, HealtH2Media. Genetic Metabolic Dieticians International. Beth Ogata , MS, RD, CSP. If you need to contact us regarding he app you can do so via this email address: ObscureMyEmail. It can take up to 48 hours to receive a reply. Who created this App? This page was last updated on: 2016-01-20.
health2media.com
HealtH2Media Portofolio
http://www.health2media.com/work.html
Custom design and development. Some examples of our work. Hover images to see more info. An informative website with dedicated portals, referral system for patients and newsblog. An interactive tool for clinician and scientist. Informative website for the Adult Metabolic Diseases Clinic, VGH. Creation of multi functional surveys and databases using REDCap. They all look the same.because your content deserves the attention of your audience we create stunning presentations.
treatable-id.org
An Introduction to Treatable ID
http://www.treatable-id.org/page94/intro.html
An interactive tool for the clinician. A systematic literature review. Performed by Dr. Clara van Karnebeek and Dr. Sylvia Stöckler. Identified 81 inborn errors of metabolism. Which are causally related to Intellectual Disability and amenable to therapy. These 81 diseases are presented on this website as an interactive tool for the clinician and scientist. How does the tool work? 2 Signs and Symptoms. 4 Therapy and Evidence. 5 The Disease Information Page. What info can I find on the buttons? What info c...
