Inborn Errors of Metabolism

Common Name(s)

Inborn Errors of Metabolism

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Inborn Errors of Metabolism" for support, advocacy or research.

Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

Last Updated: 21 Feb 2018

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Glut1 Deficiency Foundation

The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to education, awareness, and advocacy for Glut1 Deficiency and supporting researchers as they work for better treatments and an ultimate cure.

Last Updated: 19 Mar 2013

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Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Last Updated: 12 Jul 2016

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Inborn Errors of Metabolism" for support, advocacy or research.

Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

https://www.barthsyndrome.org

Last Updated: 21 Feb 2018

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Glut1 Deficiency Foundation

The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to education, awareness, and advocacy for Glut1 Deficiency and supporting researchers as they work for better treatments and an ultimate cure.

http://www.G1DFoundation.org

Last Updated: 19 Mar 2013

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Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

www.oaanews.org

Last Updated: 12 Jul 2016

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General Support Organizations

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General Resources

Probono Grief Support

Deb Lee Gould, MEd, is a bereaved parent since 1985 and a Grief Consultant. She offers pro bono grief support to parents and other adult family members and friends living with the death of a child of any age and from any cause.

Updated 3 Mar 2013

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Professional Healthcare Brochure

Educational brochure for families and clinicans

Updated 21 Feb 2018

Open Doc
2016 Conference Program

Agenda for BSF's 2016 conference

Updated 21 Feb 2018

Open Doc
How to Diagnose Barth Syndrome

How to diagnose Barth syndrome

Updated 21 Feb 2018

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Overview of Barth Syndrome

Overview of Barth syndrome

Updated 21 Feb 2018

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Inborn Errors of Metabolism" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Inborn Errors of Metabolism" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland
 

Status: Recruiting

Condition Summary: Inborn Errors of Metabolism

 

Last Updated: 22 May 2018

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Clinical and Laboratory Study of Methylmalonic Acidemia
 

Status: Recruiting

Condition Summary: Inborn Errors of Metabolism

 

Last Updated: 31 Jul 2018

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The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
 

Status: Recruiting

Condition Summary: UCD; MMA; Acidemias; Fatty Acid Oxidation Defects; Mitochondrial Disease

 

Last Updated: 14 Aug 2018

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