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: 11 Apr 2016

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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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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: 11 Apr 2016

View Details
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

View Details
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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Barth Syndrome Professional Healthcare Brochure

Important information regarding diagnosis and treatment of Barth syndrome.

Updated 12 Apr 2014

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2014 Conference Program

2014 Conference Program

Updated 14 Jan 2015

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How to Diagnose

How to diagnose Barth syndrome

Updated 14 Jan 2015

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Overview of Barth syndrome

Overview of Barth syndrome

Updated 14 Jan 2015

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Barath Syndrome Journal

Newsletter published twice a year.

Updated 15 Mar 2016

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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

N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
 

Status: Recruiting

Condition Summary: Inborn Errors of Metabolism

 

Last Updated: 25 Jan 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: 7 Dec 2017

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Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
 

Status: Recruiting

Condition Summary: Metabolism

 

Last Updated: 29 Sep 2017

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