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: 14 Jan 2015

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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?

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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: 14 Jan 2015

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: 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.

https://fodsupport.org/

Last Updated: 29 Apr 2014

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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

Open Doc
2014 Conference Program

2014 Conference Program

Updated 14 Jan 2015

Open Doc
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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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 95 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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Central mechanisms of obesity and related metabolic diseases.
 

Author(s): Dongsheng Cai

Journal: Rev Endocr Metab Disord. 2013 Dec;14(4):309-10.

 

Last Updated: 1 Nov 2013

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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 102 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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Adipokines, metabolic syndrome and rheumatic diseases.
 

Author(s): Vanessa Abella, Morena Scotece, Javier Conde, Verónica López, Verónica Lazzaro, Jesús Pino, Juan J Gómez-Reino, Oreste Gualillo

Journal: J Immunol Res. 2014 ;2014():343746.

 

The metabolic syndrome (MetS) is a cluster of cardiometabolic disorders that result from the increasing prevalence of obesity. The major components of MetS include insulin resistance, central obesity, dyslipidemia, and hypertension. MetS identifies the central obesity with increased ...

Last Updated: 17 Apr 2014

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Differential roles of PPARγ vs TR4 in prostate cancer and metabolic diseases.
 

Author(s): Su Liu, Shin-Jen Lin, Gonghui Li, Eungseok Kim, Yei-Tsung Chen, Dong-Rong Yang, M H Eileen Tan, Eu Leong Yong, Chawnshang Chang

Journal: Endocr. Relat. Cancer. 2014 Jun;21(3):R279-300.

 

Peroxisome proliferator-activated receptor γ (PPARγ, NR1C3) and testicular receptor 4 nuclear receptor (TR4, NR2C2) are two members of the nuclear receptor (NR) superfamily that can be activated by several similar ligands/activators including polyunsaturated fatty acid metabolites, ...

Last Updated: 28 May 2014

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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

Last Updated: 27 Oct 2014

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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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