Geneticalliance.org barth syndrome Foundation PO Box 974 Perry, FL 32348 Phone 850.223.1128 Fax850.223.1128 Website http//www.barthsyndrome.org http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t
Geneticalliance.org National Organization for Rare Disorders (NORD) barth syndrome barth syndrome -X-linked Cardiomyopathy and Neutropenia http://www.geneticalliance.org/ws_display.asp?filter=resources_by_disease&keywor
Canadian Directory Of Genetic Support Groups barth syndrome Foundation Canada PO Box 40 30 Kings Crescent Ajax, Ontario,Canada, L1S 3C2 Tel 905.426.9126 Email inquiries@barthsyndrome.ca http://www.lhsc.on.ca/programs/medgenet/barthsyn.htm
The Health Library Genetics And Birth Defects BardetBiedl SyndromeGeneReviews. barth syndrome. barth syndromeNINDS About barth syndromebarth syndrome Foundation barth syndromeOMIM, NCBI http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetic_mca_ac.
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Barth Syndrome, Eastern Carolina barth syndrome University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in eastern http://www.uhseast.com/142268.cfm
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Barth Syndrome Synonyms, Eastern Carolina barth syndrome Synonyms University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/112061.cfm
Extractions: It is possible that the main title of the report Barth Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Barth syndrome is a genetic disorder that appears to occur exclusively in males. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course may vary considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils) that help to fight bacterial infections (known as neutropenia); and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, particularly 3-methylglutaconic acid (3-methylglutaconic aciduria/acidemia).
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Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Neuromuscular Diseases Last Updated: November 9, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: Barth syndrome, Bethlem myopathy, Mcleod syndrome, sarcoglycanopathies, LGMD AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Glenn Lopate, MD , Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Chief of Neurology, St Louis ConnectCare Glenn Lopate, MD, is a member of the following medical societies: American Association of Neuromuscular and Electrodiagnostic Medicine Muscular Dystrophy Association , and Phi Beta Kappa Editor(s): Raj D Sheth, MD , Director Comprehensive Epilepsy Program, Professor, Departments of Neurology and Pediatrics, Department of Neurology, University of Wisconsin at Madison; Francisco Talavera, PharmD, PhD
Extractions: Purpose: The purpose of this case report is to describe the gross motor development of a toddler with Barth Syndrome, an X-linked genetic disorder. Summary of Key Points: Barth Syndrome is an unusual pediatric cardiovascular and neuromuscular disorder with a combination of features, including dilated cardiomyopathy, persistent aciduria, skeletal myopathy, severe neutropenia, and growth retardation. The child described in this report has a complicated medical history, including the diagnosis of Barth syndrome at 38 months of age. He began receiving early intervention services, including physical therapy, because of developmental delays at 13 months. This report was written when the child was 45 months old. Implications for working with a child with a cardiomyopathy and neutropenia are presented. Cardiovascular changes following transcatheterization for an atrial septal defect are described. Developmental changes secondary to an early intervention program that included physical therapy are discussed. Recommendations: Multiple aspects of care need to be considered when working with a child with a genetic syndrome that involves a cardiac defect and cardiomyopathy. When working with a child with a known cardiomyopathy, the physical therapist must watch for signs of cardiores-piratory distress. In addition, neutropenia is often associated with Barth syndrome, so the therapist must be cognizant of exposing the child to any illnesses.
٠راÙز ارائ٠دÙÙد٠گرÙت barth syndrome Foundation Inc.,PO Box 618,Larchmont, NY 10538 The BarthSyndrome Foundation guides the search for a cure to barth syndrome, educates and http://www.nrcms.ir/grants/detail.asp?grantID=36
Funding Opportunities June 30, 2005 gene product function, and treatment of barth syndrome. barth syndrome is aserious Xlinked recessive condition associated with neutropenia, http://www.fmd.uwo.ca/research/funding_ops/July_4_05.html
Extractions: Funding Opportunities June 30, 2005 Ontario HIV Treatment Network The OHTN Board of Directors has identified research regarding the correction of Facial Lipoatrophy (FLA) as a priority for the OHTN. FLA occurs in people living with HIV subsequent to anti-retroviral therapy. We are seeking letters of intent from researchers interested in developing a program of research including clinical trials related to the correction of FLA. The researchers must:
X-linked Cardioskeletal Myopathy With Neutropenia barth syndrome is the first known mitochondrial disorder with an The majorityof children with barth syndrome are hypotonic at birth and have clinical http://www.medlink.com/PublicCIP.ASP?access=public&UID=MLT000TO&code=
FYI From The NHLBI, Public Interest News: Constituent's Corner The barth syndrome Foundation, Inc., would like to report on the great successof its barth syndrome is an Xlinked recessive condition that encompasses http://www.nhlbi.nih.gov/public/sept04/corner.htm
Extractions: In response to patient requests for information on pulmonary fibrosis, the Pulmonary Fibrosis Foundation has published a 48-page handbook on the disease. The booklet provides answers to questions such as, What is pulmonary fibrosis? What are its prevalence, symptoms, causes, treatments, and prognosis? Detailed information is provided in language that an average patient can understand. Modified 8/25/04 The Barth Syndrome Foundation, Inc., would like to report on the great success of its second biennial International Scientific/Medical and Family Conference that was held in Orlando, Florida, in July. Barth syndrome is an X-linked recessive condition that encompasses cardiomyopathy, neutropenia, skeletal muscle weakness, and growth delay. Having researchers and physicians meet together is a very positive experience. Interaction among researchers and within the physician communities has obvious benefits, but we also see tremendous advantage in having the bench scientists and the clinicians meet together. The basic scientists are intrigued by the clinical manifestations of the processes that they study on a cellular or even molecular level. In turn, the doctors who treat patients with the syndrome often gain a lot from an increased understanding of what occurs on a microscopic level.
THE GRANT ADVISOR - JUNE 2002 barth syndrome FOUNDATION barth syndrome is an Xlinked recessive, cardioskeletal myopathy associated http://www.grantadvisor.com/sample.txt
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Item Event Children with barth syndrome and families come together from across barth syndrome is a genetic disease affecting boys first described by a Dutch http://www.ubht.nhs.uk/press/view.asp?220
*300394 TAFAZZIN; TAZ (1996) identified the TAZ gene within the critical barth syndrome region on Xq28 (1997) evaluated 14 barth syndrome pedigrees and found mutations in the http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:300394] -e
302060 BARTH SYNDROME; BTHS A number sign ( ) is used with this entry because barth syndrome is caused by barth syndrome was the first identified inborn error of metabolism that http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:302060] -e
