Metabolic Diseases

Common Name(s)

Metabolic Diseases

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Metabolic Diseases" 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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BOKS vzw

Improvement of live quality and quantity for people with metabolic disorders. Give our children more life for their years and more years to live.

Last Updated: 24 Nov 2009

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 28 Jul 2015

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General Support Organizations

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How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Metabolic Diseases" 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
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BOKS vzw

Improvement of live quality and quantity for people with metabolic disorders. Give our children more life for their years and more years to live.

http://www.boks.be

Last Updated: 24 Nov 2009

View Details
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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 28 Jul 2015

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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 "Metabolic Diseases" returned 143 free, full-text research articles on human participants. First 3 results:

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
 

Author(s): Kyoung Jin Park, Seungman Park, Eunhee Lee, Jong Ho Park, June Hee Park, Hyung Doo Park, Soo Youn Lee, Jong Won Kim

Journal: Ann Lab Med. 2016 Nov;36(6):561-72.

 

A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the current NBS tests. To overcome these issues, we developed a multigene panel ...

Last Updated: 31 Aug 2016

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Exchange of Partial Liver Transplantation Between Children with Different Non-Cirrhotic Metabolic Liver Diseases: How Do We Arrive There?
 

Author(s): Cheng-Yen Chen, Chinsu Liu, Niang-Cheng Lin, Hsin-Lin Tsai, Che-Chuan Loong, Cheng-Yuan Hsia

Journal:

 

Hepatic-based metabolic disorders are characterized by an enzyme deficiency expressed solely or mainly in the liver. They are divided into cirrhotic or non-cirrhotic metabolic liver diseases (NCMLDs), and most of them can be treated by liver transplantation. Because the livers with ...

Last Updated: 23 Aug 2016

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High levels of serum vitamin D are associated with a decreased risk of metabolic diseases in both men and women, but an increased risk for coronary artery calcification in Korean men.
 

Author(s): Ki-Chul Sung, Yoosoo Chang, Seungho Ryu, Hye-Kyung Chung

Journal:

 

There are conflicting results for relationships between serum vitamin D levels and metabolic diseases. The aim of this study was to investigate whether serum vitamin D levels were associated with various metabolic diseases including insulin resistance (IR), metabolic syndrome (MS), ...

Last Updated: 13 Aug 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Metabolic Diseases" returned 143 free, full-text review articles on human participants. First 3 results:

The gut microbiota: a key regulator of metabolic diseases.
 

Author(s): Jin-Young Yang, Mi-Na Kweon

Journal: BMB Rep. 2016 Oct;49(10):536-541.

 

The prevalence of obesity and type 2 diabetes, two closely linked metabolic disorders, is increasing worldwide. Over the past decade, the connection between these disorders and the microbiota of the gut has become a major focus of biomedical research, with recent studies demonstrating ...

Last Updated: 17 Aug 2016

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Effect of Associated Autoimmune Diseases on Type 1 Diabetes Mellitus Incidence and Metabolic Control in Children and Adolescents.
 

Author(s): Aleksandra Krzewska, Iwona Ben-Skowronek

Journal: Biomed Res Int. 2016 ;2016():6219730.

 

Type 1 diabetes mellitus (T1DM) is one of the most common chronic diseases developing in childhood. The incidence of the disease in children increases for unknown reasons at a rate from 3 to 5% every year worldwide. The background of T1DM is associated with the autoimmune process ...

Last Updated: 15 Aug 2016

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The Promise and Challenge of Therapeutic MicroRNA Silencing in Diabetes and Metabolic Diseases.
 

Author(s): Praveen Sethupathy

Journal: Curr. Diab. Rep.. 2016 Jun;16(6):52.

 

MicroRNAs (miRNAs) are small, non-coding, RNA molecules that regulate gene expression. They have a long evolutionary history and are found in plants, viruses, and animals. Although initially discovered in 1993 in Caenorhabditis elegans, they were not appreciated as widespread and ...

Last Updated: 26 Apr 2016

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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

Quality of Life of Patients and Theirs Parents With Inherited Metabolic Diseases With Restricted Diet
 

Status: Recruiting

Condition Summary: Inherited Metabolic Diseases Requiring Restrictive and Specific Diet

 

Last Updated: 15 Sep 2015

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Genetic and Metabolic Disease in Children
 

Status: Recruiting

Condition Summary: Genetic Diseases; Metabolic Diseases

 

Last Updated: 6 Jan 2017

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Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)
 

Status: Not yet recruiting

Condition Summary: Inherited Metabolic Disorders (IMD)

 

Last Updated: 14 Mar 2017

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