Health and Medical Guide to Genetics vs. Birth Defects Genetic Brain Disorders Health information topics about Genetic Brain Disorders: Clinical Trials 1. ClinicalTrials.gov: Niemann-Pick Diseases National Institutes of Health http://clinicaltrials.gov/ct/gui/action/FindCondition?ui=D009542&recruiting... 2. ClinicalTrials.gov: Maple Syrup Urine Disease National Institutes of Health http://clinicaltrials.gov/ct/gui/action/FindCondition?ui=D008375&recruiting... 3. ClinicalTrials.gov: Brain Diseases, Metabolic, Inb National Institutes of Health http://clinicaltrials.gov/ct/gui/action/FindCondition?ui=D020739&recruiting... Dictionaries/Glossaries 1. Brain and Nervous System Definitions Mayo Foundation for Medical Education and Research http://www.mayoclinic.com/invoke.cfm?id=BN00023 Directories 1. US Clinic Directory Search Children's Health Care System, Seattle http://www.genetests.org/servlet/access?id=8888891&key=yLoqrsrCVms-M&fcn=y&... 2. Genetic and Rare Diseases Information Center Office of Rare Diseases http://rarediseases.info.nih.gov/html/resources/info_cntr.html 3. Laboratory Directory-GeneReviews Children's Health Care System, Seattle http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&... Genetics 1. Genes and Disease: Glucose Galactose Malabsorption National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd... 2. Genes and Disease: Refsum Disease National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd... 3. Genes and Disease: Zellweger Syndrome National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd... 4. Genetics Home Reference: Galactosemia National Library of Medicine http://ghr.nlm.nih.gov/condition=galactosemia 5. Genetics Home Reference: Menkes syndrome National Library of Medicine http://ghr.nlm.nih.gov/condition=menkessyndrome 6. Genetics Home Reference: Maple syrup urine disease National Library of Medicine http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease 7. Genetics Home Reference: Lesch-Nyhan syndrome National Library of Medicine http://ghr.nlm.nih.gov/condition=leschnyhansyndrome 8. Genetics Home Reference: Fabry disease National Library of Medicine http://ghr.nlm.nih.gov/condition=fabrydisease 9. Genes and Disease: Maple Syrup Urine Disease National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd... Organizations 1. MSUD (Maple Syrup Urine Disease) Family Support Gr MSUD Family Support Group http://www.msud-support.org/ 2. National Niemann-Pick Disease Foundation http://www.nnpdf.org/ 3. National Newborn Screening and Genetics Resource C http://genes-r-us.uthscsa.edu/ 4. Save Babies Through Screening Foundation http://www.savebabies.org/ 5. National Institute of Neurological Disorders and S http://www.ninds.nih.gov/ Prevention/Screening 1. Newborn Screening Tests March of Dimes Birth Defects Foundation http://www.marchofdimes.com/pnhec/298_834.asp 2. Layperson's Guide to Tandem Mass Spectrometry Save Babies Through Screening Foundation http://www.savebabies.org/NBS/msms-chace.php Research 1. Rare Deficit Maps Thinking Circuitry National Institute of Mental Health http://www.nih.gov/news/pr/sep2004/nimh-01.htm 2. Researchers Identify Joubert Syndrome Genes National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/news_and_events/news_articles/news_article_Joubert... Specific Conditions 1. Fabry's Disease National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm 2. Nonketotic Hyperglycinemia Save Babies Through Screening Foundation http://www.savebabies.org/diseasedescriptions/nkh.htm 3. Zellweger Syndrome National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm 4. Leigh's Disease National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm 5. Joubert Syndrome National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/joubert/joubert.htm 6. Homocystinuria Save Babies Through Screening Foundation http://www.savebabies.org/diseasedescriptions/homocystinuria.php 7. Gerstmann-Straussler-Scheinker Disease National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/gss/gss.htm 8. Galactosemia American Liver Foundation http://www.liverfoundation.org/cgi-bin/dbs/articles.cgi?db=articles&uid=def... 9. Fahr's Syndrome National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm 10. Citrullinemia Save Babies Through Screening Foundation http://www.savebabies.org/diseasedescriptions/citrullinemia.php 11. Cerebellar Degeneration National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/cerebellar_degeneration/cerebellar_degen... 12. Lesch-Nyhan Syndrome National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm 13. Maple Syrup Urine Disease (MSUD) Save Babies Through Screening Foundation http://www.savebabies.org/diseasedescriptions/msud.php 14. What Is Niemann-Pick Disease? National Niemann-Pick Disease Foundation http://www.nnpdf.org/descrip.htm 15. What Is a Urea Cycle Disorder? National Urea Cycle Disorders Foundation http://www.nucdf.org/what_is.htm 16. Tyrosinemia American Liver Foundation http://www.liverfoundation.org/cgi-bin/dbs/articles.cgi?db=articles&uid=def... 17. Refsum Disease National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/refsum/refsum.htm 18. Niemann-Pick Disease National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/niemann/niemann.htm 19. Moyamoya Disease National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/moyamoya/moyamoya.htm 20. Mitochondrial Myopathies National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myo... 21. Menkes Disease National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/menkes/menkes.htm 22. Alpers' Disease National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm   Recommended Resources: [CaRP] Can't open cache file. [CaRP] Unable to create/open RSS cache file. [CaRP] Failed to open file: /home/genetics/public_html/carp/autocache/f60627ca1db8c2ae253c816eedcd460e [CaRP] Can't open remote newsfeed.