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: 12 Apr 2014

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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: 31 Jul 2013

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FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

Last Updated: 29 Apr 2014

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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.

http://www.barthsyndrome.org

Last Updated: 12 Apr 2014

View Details
Logo
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
Logo
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: 31 Jul 2013

View Details
FOD Family Support Group

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

https://fodsupport.org/

Last Updated: 29 Apr 2014

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General Support Organizations

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General Resources

2012 Conference Program

Barth Syndrome Foundation 2012 Conference Program

Updated 2 Nov 2012

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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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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 94 free, full-text research articles on human participants. First 3 results:

Prevalence of chronic kidney disease and its association with metabolic diseases: a cross-sectional survey in Zhejiang province, Eastern China.
 

Author(s): Bo Lin, Lina Shao, Qun Luo, Lingxia Ou-yang, Fangfang Zhou, Biao Du, Qiang He, Jianyong Wu, Nan Xu, Jianghua Chen

Journal:

 

The prevalence of chronic kidney disease (CKD) and metabolic diseases has increased at different rates in different regions in China. The aim of our study was to estimate the prevalence of CKD and to analyze associated risk factors of CKD in Zhejiang province, Eastern China.

Last Updated: 27 Feb 2014

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Drug development for exceptionally rare metabolic diseases: challenging but not impossible.
 

Author(s): Michelle Putzeist, Aukje K Mantel-Teeuwisse, Christine C Gispen-de Wied, Arno W Hoes, Hubert G M Leufkens, Remco L A de Vrueh

Journal:

 

We studied to what extent the level of scientific knowledge on exceptionally rare metabolic inherited diseases and their potential orphan medicinal products is associated with sponsors deciding to apply for an orphan designation at the US Food and Drug Administration (FDA) or the ...

Last Updated: 16 Jan 2014

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

[Metabolic pro-inflammatory stress, adipokines and respiratory diseases].
 

Author(s): A T Dinh-Xuan

Journal: Tunis Med. 2014 Jan;92(1):86-8.

 

Last Updated: 2 Jun 2014

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Circadian disruption: potential implications in inflammatory and metabolic diseases associated with alcohol.
 

Author(s): Robin M Voigt, Christopher B Forsyth, Ali Keshavarzian

Journal: Alcohol Res. 2013 ;35(1):87-96.

 

Circadian rhythms are a prominent and critical feature of cells, tissues, organs, and behavior that help an organism function most efficiently and anticipate things such as food availability. Therefore, it is not surprising that disrupted circadian rhythmicity, a prominent feature ...

Last Updated: 9 Dec 2013

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Respiratory manifestations in patients with inherited metabolic diseases.
 

Author(s): Francesca Santamaria, Silvia Montella, Virginia Mirra, Sara De Stefano, Generoso Andria, Giancarlo Parenti

Journal: Eur Respir Rev. 2013 Dec;22(130):437-53.

 

Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. Life expectancy for many patients is progressively improving because new therapeutic strategies are available. Because most inherited metabolic diseases are systemic disorders, virtually ...

Last Updated: 2 Dec 2013

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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

Chung-ju Metabolic Disease Cohort (CMC) Study
 

Status: Recruiting

Condition Summary: Metabolic Diseases

 

Last Updated: 25 Jul 2014

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MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Rett Syndrome; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 18 Jul 2014

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Hepatocyte Transplantation for Liver Based Metabolic Disorders
 

Status: Recruiting

Condition Summary: Metabolic Diseases

 

Last Updated: 13 Sep 2011

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