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Recent News and Articles on the Keywords: fabry's disease + fabry disease + fabry  Related to the article below (Last Update: 8/5/2008)

Amicus Therapeutics Announces Successful Completion Of End Of ...
Medical News Today (press release), UK - 30 minutes ago
"We look forward to continuing our work with the FDA and EMEA to design a global Phase 3 program for Amigal in Fabry disease." The meeting followed the ...FOLD
Amicus Therapeutics reveals Completion of End of Phase 2 Meeting ...
RTT News, NY -
The company said that the meeting followed the successful conduct of Phase 2 clinical studies in patients with Fabry disease that showed Amigal was ...
Amicus Therapeutics completes end of phase 2 meeting with FDA for ... RTT News
all 2 news articles »  FOLD

Wall Street Journal Blogs
Big Pharma reaps rewards of a focused strategy
Financial Times, UK - Jul 31, 2008
Thus, previously near-unheard of illnesses such as gastrointestinal stromal tumours, Fabry's disease, Gaucher disease and mantle cell lymphoma are now high ...
Hey, Drug Resarchers, Lotsa Luck! Wall Street Journal Blogs
A balanced approach needed over drugs innovation Financial Times
all 6 news articles »
CyGene Laboratories Launches StrokeScan(TM) DNA Analysis
MarketWatch - Jul 21, 2008
Fabry disease is a genetic disorder that results in an enzyme deficiency that commonly causes death before age 55 by way of stroke, heart attack or kidney ...
Analyst Blog Amicus Pipeline Still Early
Zacks.com, IL - Jul 31, 2008
Amicus Therapeutics (FOLD) has three lead candidates: Amigal in phase II for Fabry disease, Plicera in phase II for Gaucher disease, and AT2220 in phase I ...
Zacks Analyst Blog Highlights: Charlotte Russe Holding Inc., EOG ... Business Wire (press release)
all 7 news articles »  FOLD - EOG - CHIC
CyGene to launch new genetic screening test
Trading Markets (press release), CA - Jul 22, 2008
Genetic screening of people in high risk groups is essential in order to identify and then diagnose Fabry disease accurately and at an early stage. ...
Amicus Therapeutics Announces Second Quarter 2008 Results Release Date
CNNMoney.com (press release) - Jul 31, 2008
Amicus has completed Phase 2 clinical trials of Amigal for the treatment of Fabry disease and is conducting Phase 2 clinical trials of Plicera for the ...FOLD
Pulmonary Langerhans Cell Histiocytosis and Other Pulmonary ...
RedOrbit, TX - Jul 16, 2008
Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. J Dtsch Dermatol Ges. 2007;5:594-597. 75. ...

RTT News
Genzyme Beats, Holds to Lowered Guidance
TheStreet.com - Jul 23, 2008
Sales of Gaucher disease treatment Cerezyme and Fabry disease treatment Fabrazyme came in at $319 million and $127 million, vs. the Street expectations of ...
Genzyme 2nd-quarter net profit falls on costs guardian.co.uk
Genzyme Q2 net profit falls on costs Business Spectator
all 30 news articles »  GENZ
Shire Delivers Strong Quarter: Driven by $243m of New Product ...
PR Newswire (press release), NY - Jul 31, 2008
REPLAGAL - Fabry disease Sales for the three months to June 30, 2008 were $44.7 million, an increase of 40% compared to the same period in 2007 (2007: $31.9 ...
Dynepo dropped as Shire places its faith in Vyvanse for growth Pharma Times (subscription)
all 39 news articles »  SHPGY - FRA:JI4
Source: Google News

[CITATION] Enzyme Replacement Therapy in Fabry Disease: A Randomized Controlled Trial -
R Schiffmann, JB Kopp, HA Austin III, S Sabnis, DF … - JAMA: The Journal of the American Medical Association, 2001 - JAMA
... Enzyme Replacement Therapy in Fabry Disease ... Objective To evaluate the safety
and efficacy of intravenous -gal A for Fabry disease. ...

[CITATION] a-Galactosidase A deficiency: Fabry disease
RJ Desnick, YA Ioannou, CM Eng? - The Metabolic and Molecular Bases of Inherited Disease, 2001 - McGraw-Hill

… and Efficacy of Recombinant Human {alpha}-Galactosidase A Replacement Therapy in Fabry's Disease -
CM Eng, N Guffon, WR Wilcox, DP Germain, P Lee, S … - New England Journal of Medicine, 2001 - content.nejm.org
... Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases. ... Fabry Disease,
an Under-Recognized Multisystemic Disorder: Expert Recommendations for ...

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy -
S Nakao, T Takenaka, M Maeda, C Kodama, A Tanaka, … - New England Journal of Medicine, 1995 - content.nejm.org
... Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy. ... Fabry Disease:
A Study of 6 Hemizygous Men and 5 Heterozygous Women With Emphasis on ...

Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, … -
RJ Desnick, R Brady, J Barranger, AJ Collins, DP … - Annals of Internal Medicine, 2003 - annals.highwire.org
... CLINICAL GUIDELINES. Fabry Disease, an Under-Recognized Multisystemic Disorder:
Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy ...

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous … -
KD MacDermot, A Holmes, AH Miners - British Medical Journal, 2001 - jmg.bmj.com
... Anderson-Fabry disease is the second most common glycosphingolipid storage disorder
(after ... As in other rare metabolic diseases, the disease register and ...

Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy -
B Sachdev, T Takenaka, H Teraguchi, C Tei, P Lee, … - Circulation, 2002 - Am Heart Assoc
... Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic
Cardiomyopathy. ... Galactosidase, a deficiency: Fabry disease. ...

… of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease -
R Schiffmann, GJ Murray, D Treco, P Daniel, M … - Proceedings of the National Academy of Sciences, 2000 - National Acad Sciences
... Potential Enzyme for Replacement Therapy for Tay-Sachs and Sandhoff Diseases, in
the ... May Slow Decline of Renal Function in Patients with Fabry Disease Who Are ...

Correction of Sickle Cell Disease in Transgenic Mouse Models by Gene Therapy -
R Pawliuk, KA Westerman, ME Fabry, E Payen, R … - Science, 2001 - sciencemag.org
... appears in the following Subject Collections: Medicine, Diseases. ... Correction of Sickle
Cell Disease in Transgenic Mouse ... Westerman, 1 2 Mary E. Fabry, 3 Emmanuel ...

Anderson?Fabry disease: Clinical manifestations of disease in female heterozygotes -
C Whybra, C Kampmann, I Willers, J Davies, B … - Journal of Inherited Metabolic Disease, 2001 - Springer
... In female heterozygotes, the phenotypic expression of Anderson^Fabry disease is
also in ... clinical manifestations in female carriers of X-linked diseases such as ...

Source: Google Scholar
 

Fabry's Disease

Fabry's disease is a genetic disorder related to the lack of an enzyme needed for normal metabolism. The disease causes the enzyme to collect in many tissues.

Symptoms

In men a rash typically appears on the lower part of the body. Other signs include:

  • Opaque areas in the corneas
  • Feverish episodes
  • Burning pain in the hands and feet
Women who have inherited only one X-chromosome with this disorder may have no symptoms. If they do, the symptoms are much milder than for men. They may still have opaque areas in their corneas.

Article continues below and (thank you)

 
Causes and Risk Factors

This is a genetic condition that is inherited through an X-chromosome.

Diagnosis

Diagnosis in men is based on the appearance of the rash and other symptoms.

Prenatal diagnosis is possible through amniocentesis or chorionic villi sampling. Death can occur from kidney failure or complications involving the heart or brain due to high blood pressure or other vascular diseases.

Treatment

Treatment is supportive, especially in patients with fever or pain. Research into methods for replacing the missing enzyme is currently underway, but the effectiveness of this therapy depends on the availability of large amounts of the enzyme.

Kidney transplantation can help in treating kidney failure associated with this condition.

 
 
 
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