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GeneticsandBirthDefects.com


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: Yahoo! News: Medications/Drugs News
Medications/Drugs News

Clinical Trials Update: March 12, 2010 (HealthDay)
HealthDay - (HealthDay News) -- Here are the latest clinical trials, courtesy of ClinicalConnection.com:

Plavix Less Effective in Some Patients (HealthDay)
HealthDay - FRIDAY, March 12 (HealthDay News) -- The anti-clotting drug Plavix must now carry a "black box" warning on its label, alerting patients and doctors that some people don't metabolize the medication properly, U.S. health officials said Friday.

Long-used, little-studied laxative safe, effective (Reuters)
Reuters - Until now, a scant number of top notch clinical trials have evaluated whether sodium picosulfate -- the active ingredient in numerous over-the-counter laxatives -- is safe and effective.

Clinical Trials Update: March 10, 2010 (HealthDay)
HealthDay - (HealthDay News) -- Here are the latest clinical trials, courtesy of ClinicalConnection.com:

Alternative to Statins Shows Promise (HealthDay)
HealthDay - WEDNESDAY, March 10 (HealthDay News) -- A thyroid-derived cholesterol-lowering drug that could be an alternative to the widely used statin medications has done well in a small, early trial, Swedish and American researchers report.

For Tough Head Lice, Pill Tops Lotion (HealthDay)
HealthDay - WEDNESDAY, March 10 (HealthDay News)-- In children with hard-to-treat head lice, the oral medication ivermectin is more effective than the standard treatment, the topical cream malathion, new research finds.

FDA rules out bisphosphonate, thigh fracture link (Reuters)
Reuters - U.S. regulators said on Wednesday they have found no link between oral bisphosphonate osteoporosis medications such as Merck & Co Inc's Fosamax and certain thigh bone fractures.

Despite law, drug safety still a concern at FDA (Reuters)
Reuters - Recent new powers have helped the U.S. Food and Drug Administration combat contaminated medications, counterfeit pills and other safety woes, but more work is needed to address lingering concerns about drug risks, FDA officials said on Wednesday.

Clinical Trials Update: March 9, 2010 (HealthDay)
HealthDay - (HealthDay News) -- Here are the latest clinical trials, courtesy of ClinicalConnection.com:

Most Drug Studies Don't Help Docs Pick Best Treatment (HealthDay)
HealthDay - TUESDAY, March 9 (HealthDay News) -- Less than one-third of drug studies published in major medical journals answer the fundamental question of which of the range of available medications works best for a particular condition.

Medication fears lead to worse side effects (Reuters)
Reuters - It may not be surprising, but a new study offers some proof that patients who are worried about their medications are more likely to have side effects from them.

Home abortion drug use effective, safe for most (Reuters)
Reuters - Medication-induced home abortions are safe for women who are 50 to 63 days pregnant, a new study from Sweden shows.

HIV Hides Out in Bone Marrow Cells (HealthDay)
HealthDay - SUNDAY, March 7 (HealthDay News) -- Medications can reduce the level of the AIDS virus in the blood to zero, but HIV doesn't disappear and often roars back when patients stop taking their pills. Now, research is giving scientists new insight into how the virus manages to hide and avoid the killing powers of medicine.

Study Looks At Cost-Effectiveness of ECG in Hyperactive Kids (HealthDay)
HealthDay - MONDAY, March 8 (HealthDay News) -- Electrocardiogram screening to check for heart problems in hyperactive children before prescribing stimulant medications may help identify those at risk, but is only borderline cost-effective compared to the current practice of taking a patient history and doing a physical examination, a new study shows.

Thailand seeks WTO solution on generic drugs (AFP)

AFP - A senior Thai official voiced hope Monday for a WTO solution on the production of low-cost generic drugs, an issue that has stirred friction with Western companies.






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