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: 21 Feb 2018

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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.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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: 21 Feb 2018

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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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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 "Metabolic Diseases" returned 180 free, full-text research articles on human participants. First 3 results:

A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.
 

Author(s): Jung Min Ko, Kyung Sun Park, Yeeok Kang, Seong Hyeuk Nam, Yoonjung Kim, Inho Park, Hyun Wook Chae, Soon Min Lee, Kyung A Lee, Jong Won Kim

Journal: Yonsei Med. J.. 2018 Jul;59(5):652-661.

 

We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newborn screening (NBS) and demonstrated the efficiency ...

Last Updated: 31 Dec 1969

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Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases.
 

Author(s): Gabriel Velez, Daniel A Machlab, Peter H Tang, Yang Sun, Stephen H Tsang, Alexander G Bassuk, Vinit B Mahajan

Journal:

 

Differences in regional protein expression within the human retina may explain molecular predisposition of specific regions to ophthalmic diseases like age-related macular degeneration, cystoid macular edema, retinitis pigmentosa, and diabetic retinopathy. To quantify protein levels ...

Last Updated: 31 Dec 1969

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Circulating PCSK9 levels and 2-hPG are positively correlated in metabolic diseases in a Chinese Han population.
 

Author(s): Wen Guo, Yingyun Gong, Yong Gu, Zhenzhen Fu, Hongqi Fan, Beibei Gao, Xiaohui Zhu, Jinxiang Fu, Yang Zhao, Min Sun, Xing Liu, Xian-Cheng Jiang, Tao Yang, Hongwen Zhou

Journal:

 

Proprotein convertase subtilisin/kexin type 9 (PCSK9), which plays a crucial role in lipoprotein metabolism, has been also regarded as an important marker for atherosclerosis. Available evidence indicated that 2-h postchallenge plasma glucose (2-hPG) could be another biomarker for ...

Last Updated: 31 Dec 1969

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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 186 free, full-text review articles on human participants. First 3 results:

Mechanisms of Action of Kefir in Chronic Cardiovascular and Metabolic Diseases.
 

Author(s): Fabio S Pimenta, Maria Luaces-Regueira, Alyne Mm Ton, Bianca P Campagnaro, Manuel Campos-Toimil, Thiago Mc Pereira, Elisardo C Vasquez

Journal: Cell. Physiol. Biochem.. 2018 ;48(5):1901-1914.

 

The gut microbiota maintains a complex mutual interaction with different organs of the host. Whereas in normal conditions this natural community of trillions of microorganisms greatly contributes to the human health, gut dysbiosis is related with onset or worsening of diverse chronic ...

Last Updated: 31 Dec 1969

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Hydrogen Therapy in Cardiovascular and Metabolic Diseases: from Bench to Bedside.
 

Author(s): Yaxing Zhang, Sihua Tan, Jingting Xu, Tinghuai Wang

Journal: Cell. Physiol. Biochem.. 2018 ;47(1):1-10.

 

Hydrogen (H2) is colorless, odorless, and the lightest of gas molecules. Studies in the past ten years have indicated that H2 is extremely important in regulating the homeostasis of the cardiovascular system and metabolic activity. Delivery of H2 by various strategies improves cardiometabolic ...

Last Updated: 31 Dec 1969

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Supplementation of Micronutrient Selenium in Metabolic Diseases: Its Role as an Antioxidant.
 

Author(s): Ning Wang, Hor-Yue Tan, Sha Li, Yu Xu, Wei Guo, Yibin Feng

Journal: Oxid Med Cell Longev. 2017 ;2017():7478523.

 

Selenium is an essential mineral naturally found in soil, water, and some of the food. As an antioxidant, it is one of the necessary trace elements in human body and has been suggested as a dietary supplement for health benefit. Although the human body only needs a trace amount of ...

Last Updated: 31 Dec 1969

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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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The Effects of VEGF-B Signaling Pathway in Obesity and Metabolic Disease
 

Status: Recruiting

Condition Summary: Obesity; Metabolic Disease

 

Last Updated: 21 May 2017

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MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT)
 

Status: Recruiting

Condition Summary: Inherited Metabolic Disorders (IMD)

 

Last Updated: 5 Apr 2018

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