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 174 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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Nonalcoholic steatohepatitis and gut microbiota: Future perspectives on probiotics in metabolic liver diseases.
 

Author(s): Yusuf Yılmaz, Fatih Eren

Journal: Turk J Gastroenterol. 2017 09;28(5):327-328.

 

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

A Promising Therapeutic Target for Metabolic Diseases: Neuropeptide Y Receptors in Humans.
 

Author(s): Min Yi, Hekai Li, Zhiye Wu, Jianyun Yan, Qicai Liu, Caiwen Ou, Minsheng Chen

Journal: Cell. Physiol. Biochem.. 2018 ;45(1):88-107.

 

Human neuropeptide Y (hNPY) is one of the most widely expressed neurotransmitters in the human central and peripheral nervous systems. It consists of 36 highly conserved amino acid residues, and was first isolated from the porcine hypothalamus in 1982. While it is the most recently ...

Last Updated: 31 Dec 1969

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Interrelationship of canonical and non-canonical Wnt signalling pathways in chronic metabolic diseases.
 

Author(s): Ian Ackers, Ramiro Malgor

Journal: Diab Vasc Dis Res. 2018 01;15(1):3-13.

 

Chronic diseases account for approximately 45% of all deaths in developed countries and are particularly prevalent in countries with the most sophisticated and robust public health systems. Chronic metabolic diseases, specifically lifestyle-related diseases pertaining to diet and ...

Last Updated: 31 Dec 1969

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The Impact of Ghrelin in Metabolic Diseases: An Immune Perspective.
 

Author(s): Jéssica Aparecida da Silva Pereira, Felipe Corrêa da Silva, Pedro Manoel Mendes de Moraes-Vieira

Journal: J Diabetes Res. 2017 ;2017():4527980.

 

Obesity and insulin resistance have reached epidemic proportions. Obesogenic conditions are associated with increased risk for the development of other comorbidities and obesity-related diseases. In metabolic disorders, there is chronic low-grade inflammation induced by the activation ...

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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