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         Barth Syndrome:     more detail
  1. Endoskopie postoperativer Syndrome (German Edition)
  2. Quelques considérations générales à propos du syndrôme du corps strié. by Cécile (Mugnier) (1875-1962). VOGT, 1911

61. Health/Conditions And Diseases/Rare Disorders/Barth Syndrome -- The Doctors Loun
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  • report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... Barth Syndrome Foundation Promotes knowledge about this disease among families, physicians and scientists, serving as a focal point for data and research for scientists. The group offers support to families learning to cope with the disorder. url: www.barthsyndrome.org Clinical Mass Spectrometry Laboratory An article about Barth Syndrome with a description, clinical manifestations, etiology, epidemiology, diagnosis, prognosis and management. url: www.med.jhu.edu/CMSL/Barth_Summary.html The Complete Barth Syndrome Homepage List of clinical symptoms, history of the condition, current news, and links to support groups. url: www.csun.edu/~hcbio033/barth.html
  • 62. 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

    63. 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

    64. 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

    Index by
    support group 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 Website: Barth Syndrome Foundation
    Page revised: March 10, 2004 Maintained by: Janice Little
    Index by disease/ disorder

    Return to Programs and Services Questions? Comments? Contact Janice Little London Health Sciences Centre . Please read our

    65. 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.
    Diseases and Disorders Use these links to jump directly to your topic of interest in Genetics and Birth Defects: Genetics: General Genetics Gene Therapy Genetic Counseling Genetic Testing ... Genetics of Specific Diseases Birth Defects: General Birth Defects Cardiovascular Defects Connective Tissue Disorders Craniofacial Anomalies ... S - W Multiple Congenital Anomalies (#, A - C) Jump to: A B C D ... P Q R S T U ... W X Y Z 22q11 Deletion What is 22q?:International 22q11.2 Deletion Syndrome Foundation 22q and You Newsletter:Children's Hospital of Philadelphia 22q11.2 Deletion Syndrome:Genetics Home Reference, NLM 22q11.2 Deletion Syndrome:GeneReviews 22q13 Deletion 22q13 Deletion (Phelan-McDermid Syndrome):Chromosome 22 Central 22q13.3 Deletion Syndrome:GeneReviews Alstrom Syndrome Alstrom Syndrome:MedlinePlus Medical Encyclopedia Alstrom Syndrome:Alstrom Syndrome International Alstrom Syndrome:Genetics Home Reference, NLM Alstrom Syndrome:GeneReviews Andersen-Tawil Syndrome Cause of Rare Genetic Disorder Points to Faulty Ion Channel:Howard Hughes Medical Institute Correlation Between Long QT Syndrome And Andersen Syndrome:QTsyndrome.ch Andersen-Tawil Syndrome:Genetics Home Reference, NLM Andersen-Tawil Syndrome:GeneReviews Angelman Syndrome Angelman Syndrome:NINDS Facts About Angelman Syndrome:Angelman Syndrome Foundation Angelman Syndrome:Genetics Home Reference, NLM

    66. 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

    Health News
    Health Library Health Topics Healthy Living ... Nutrition
    Self-Help Resources
    Information about national and local self-help organizations and support groups.
    Barth Syndrome
    This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. International. Founded 2000.
    Multilingual. Offers support to families and affected individuals. Provides information, support awareness, research, outreach, newsletter, referrals, pen pals, and biennial conference. Peer to peer mentoring program.
    WRITE:
    The Barth Syndrome Fdn.
    PO Box 974
    Perry, FL 32348
    CALL: 850-223-1128 (Voice/Fax)
    E-MAIL: info@barthsyndrome.org WEBSITE: http://www.barthsyndrome.org VERIFIED: 4/2/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

    67. 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

    Health News
    Health Library Health Topics Healthy Living ... Nutrition
    Information on diseases and health concerns, including symptoms, treatment options, and prevention.
    Barth Syndrome
    Synonyms
    Disorder Subdivisions

    General Discussion

    Resources
    ...
    For a Complete Report
    Important
    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.
    Synonyms
    • Cardioskeletal Myopathy, Barth Type
    • Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria
    • Endocardial Fibroelastosis, Type 2 (EFE2)
    • 3-Methylglutaconic Aciduria, Type II (MGA, Type II)
    • X-Linked Cardioskeletal Myopathy and Neutropenia
    Disorder Subdivisions
    • None
    General Discussion
    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).

    68. Barth Syndrome Message Board @ Www.ezboard.com
    A place for those affected by barth syndrome to gather.
    http://p073.ezboard.com/bbarthsyndromemessageboard
    "); else document.write(""); // >
    Barth Syndrome Message Board
    2 registered members Login Register Your Free Account (Required) Search Help ... Need help logging in?
    Forum # Posts Last Comment Moderators Discussion Areas General Discussion
    This is a place for all forum members to post. 7/20/04 4:35 pm Barth Boys
    A Place for people with Barth Syndrome to talk. 8/3/04 7:07 pm Barth Siblings
    A Place for Siblings of Barth Boys to talk. 7/19/04 6:16 pm Polls
    This forum is designed for the creation and management of polls. 7/19/04 5:56 pm Administration Areas Administration Discussion
    This is a private forum for use by board administrators 7/19/04 6:12 pm General Information
    7/19/04 6:16 pm
    1 visitor in the last 15 minutes: Members - 1 Guest - Anonymous
    ezboard Ring: ezboard.com Support Forums
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    69. Descriptions Of Mitochondrial Diseases
    barth syndrome/ LIC (Lethal Infantile Cardiomyopathy) Source Dr. J.Christodoulou; barth syndrome clinical observations and genetic linkage studies.;
    http://www.umdf.org/mitodisease/descriptions.html

    70. Barth Syndrome Foundation, Inc.: National Institute Of Neurological Disorders An
    The National Institute of Neurological Disorders and Stroke (NINDS) is the leadingsupporter of biomedical research on disorders of the brain and nervous
    http://accessible.ninds.nih.gov/find_people/voluntary_orgs/volorg801.htm
    Find People - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus
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    Organization Contact Information
    Barth Syndrome Foundation, Inc.
    P.O. Box 974
    Perry, FL 32348
    Tel: 850-223-1128
    EMail: info@barthsyndrome.org
    http://www.barthsyndrome.org

    Description: Supports families and individuals affected by Barth syndrome through education, awareness, and research grant programs. Works with physicians to improve diagnosis and treatment and stimulates scientific advances ultimately in pursuit of a cure.
    National 501(c) tax-exempt organizations offer a comprehensive program of information and support services for patients and their families. They may offer patient and professional information and education materials, sponsor meetings and scientific workshops, fund research, and provide referrals to chapters and support groups.

    71. EMedicine - Limb-Girdle Muscular Dystrophy : Article By Glenn Lopate, MD
    Synonyms and related keywords barth syndrome, Bethlem myopathy, The XlinkedLGMD syndromes (eg, barth syndrome, Mcleod syndrome) are not discussed in
    http://www.emedicine.com/NEURO/topic189.htm
    (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
    Limb-Girdle Muscular Dystrophy
    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

    72. Pediatric Physical Therapy - Abstract: Volume 13(4) Winter 2001 P 175-181 Gross
    Gross Motor Development of a Toddler with barth syndrome, an XLinked RecessiveDisorder Summary of Key Points barth syndrome is an unusual pediatric
    http://www.pedpt.com/pt/re/pedpt/abstract.00001577-200101000-00005.htm
    LWWOnline LOGIN eALERTS REGISTER ... Archive Gross Motor Development of a Toddler... ARTICLE LINKS:
    Fulltext
    PDF (393 K) Gross Motor Development of a Toddler with Barth Syndrome, an X-Linked Recessive Disorder: A Case Report.
    Pediatric Physical Therapy. 13(4):175-181, Winter 2001.
    Jarvis, Moon SPT; Garrett, Penny MS, PT; Svien, Lana MA, PT Abstract:
    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.

    73. مراكز ارائه دهنده گرنت
    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

    74. 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
    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:
    Be willing to work collaboratively with sites in Ontario and potentially across Canada
    Be willing to work with the Canadian HIV Trials Network infrastructure for the development, review and implementation of the research program and clinical trials Deadline: September 15, 2005 For more information see http://www.ohtn.on.ca

    75. 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=

    76. 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

    NHLBI Home
    News and Events Center FYI Contents
    Constituents' Corner
    We invite you to use this space that we reserve for you to share your successes and opinions. You may submit your ideas and articles for future issues of the FYI from the NHLBI to NHLBI.Listens@nih.gov
    Pulmonary Fibrosis Foundation Publishes Patient Handbook
    From the Pulmonary Fibrosis Foundation
    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
    [Back to Top]

    [Table of Contents]
    Barth Syndrome Foundation Holds Conference
    From the Barth Syndrome Foundation
    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.

    77. THE GRANT ADVISOR - JUNE 2002
    barth syndrome FOUNDATION barth syndrome is an Xlinked recessive, cardioskeletal myopathy associated
    http://www.grantadvisor.com/sample.txt
    < > SEP 5 AI Arts International: The Fund for U.S. Artists at International Festivals 2/02 212/674-9744 and Exhibitions http://www.artsinternational.org >>> Also due: JAN16 MAY 2 < > SEP15 MDC MacDowell Colony Residencies for Writers, Composers, and Artists 10/01 603/924-3886 http://www.macdowellcolony.org >>> Also due: JAN15 APR15 < JUN 1 SLU St. Louis Univ./Vatican Film Library: Andrew W. Mellon Fellowship Program 12/01 314/977-3090 >>> Also due: OCT 1 MAR 1 < JUN17 CAN Canadian Studies Program Enhancement Grant 5/94 202/682-1740 JUN17 CAN Canadian Studies Conference Grant Program 5/94 202/682-1740 JUN30 HAGLEY Hagley Museum and Library: Short-Term Grants-in-Aid 3/02 302/658-2400 >>> Also due: OCT29 MAR31 < JUN30 HAGLEY Hagley Museum and Library: Henry Belin du Pont Fellowship 3/02 302/658-2400 >>> Also due: OCT29 MAR31 < JUL 1 NEH Nat'l Endow. for the Humanities: Preservation, Access, and Reference Works 4/02 202/606-8570 JUL15 KRESS Samuel H. Kress Foundation: Old Masters in Context 212/861-4993 >>> Also due: JAN15

    78. 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

    79. *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

    80. 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

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