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Barth Syndrome Foundation - Home - The Barth Syndrome Foundation, together with our affiliates, is a community of families, physicians, scientists, donors and volunteers around the world. As our mission statement says, we are dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome. Working together we are making a difference in the lives of children and their families. One day there will be a cure; we hope you will help us make that day come sooner.

  • https://www.barthsyndrome.org/about-barth-syndrome Barth Syndrome Foundation - Overview of Barth Syndrome - Barth syndrome (BTHS; OMIM #302060) is a rare, serious genetic disorder primarily affecting males around the world. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting in an inborn error of lipid metabolism. Though not always present, cardinal characteristics of this multi-system disorder often include combinations and varying degrees of cardiomyopathy (dilated with variable myocardial hypertrophy, sometimes with left ventricular noncompaction and/or endocardial fibroelastosis); neutropenia (chronic, cyclic, or intermittent); underdeveloped skeletal musculature and muscle weakness; growth delay (abnormal growth pattern, similar to but often more severe than constitutional growth delay); exercise intolerance; cardiolipin abnormalities; and 3-methylglutaconic aciduria (typically 5 to 20-fold increased).
  • https://www.barthsyndrome.org/science--medicine/research-grant-program Barth Syndrome Foundation - Research Grant Program - Barth Syndrome Foundation Request for Research Proposals. BSF and its affiliates sponsor a competitive research grant program to facilitate advances in Barth syndrome understanding and to encourage the discovery of new treatments. Grant applications are evaluated by BSF’s international Scientific and Medical Advisory Board, with input from expert outside reviewers.
  • https://www.barthsyndrome.org/bsf-international/deutsch Barth Syndrome Foundation - Deutsch ~ Barth Syndrom - Wir streben Leben zu retten, durch Bildung, Fortschritte in der Behandlung, und durch Suche nach einem Heilverfahren für Barth Syndrom. Wir sind eine registrierte gemeinnützige Organisation in den Vereinigten Staaten, Kanada, Südafrika und Großbritannien.
  • https://www.barthsyndrome.org/bsf-international/Espanol Barth Syndrome Foundation - Español ~ Bienvenidos a la Fundación del Síndrome de Barth - Estamos dedicamos a salvar vidas por medio de educación, avances en tratamiento, y la búsqueda de una cura para el síndrome de Barth. Estamos inscritos como organización sin fines de lucro en los Estados Unidos, Canadá, Sudáfrica e Inglaterra. El síndrome de Barth es una enfermedad seria ligada al cromosoma X y que afecta principalmente a varones. Los síntomas incluyen uno o más de los siguientes, con diferentes grados de severidad: miocardiopatía (músculo cardíaco débil), neutropenia (sistema inmune débil), debilidad muscular, y crecimiento retrasado. Lea más acerca de éstos y otros posibles síntomas.
  • https://www.barthsyndrome.org/bsf-international/francais Barth Syndrome Foundation - Français ~ Bienvenue à la Barth Syndrome Foundation - Nous nous consacrons à sauver des vies grâce à l´information, aux avancées dans les traitements et à la recherche d´un remède contre le Syndrome de Barth. Nous sommes reconnus par l´Etat comme une organisation à but non lucratif en France, aux Etats-Unis, au Canada, en Afrique du Sud et au Royaume-Uni. Le Syndrome de Barth est une grave maladie génétique liée à l´X, qui touche essentiellement les garçons. Elle se manifeste par un ou plusieurs des symptômes suivants, à différents degrés : cardiomyopathie (faiblesse du muscle cardiaque), neutropénie (déficience du système immunitaire), faiblesse musculaire et retard de croissance. Vous trouverez sur ce site des informations supplémentaires à propos de ces symptômes et d´autres symptômes possibles.
  • https://www.barthsyndrome.org/bsf-international/italiano Barth Syndrome Foundation - Italiano ~ Benvenuti alla Fondazione sulla Sindrome di Barth - La sindrome di Barth è una grave malattia genetica, la cui trasmissione è legata al cromosoma X, che colpisce principalmente il sesso maschile. I sintomi caratteristici della sindrome di Barth, che possono variare a seconda dei soggetti colpiti, sono i seguenti : cardiomiopatia (ridotta funzionalità del muscolo cardiaco), neutropenia (indebolimento del sistema immunitario), debolezza muscolare e ritardato accrescimento. Leggete sulla sezione sintomi ulteriori dettagli.
  • https://www.barthsyndrome.org/bsf-international/nederlands Barth Syndrome Foundation - Nederlands ~ Nederlandse startpagina Barth Syndroom - Wij wijden ons aan het redden van levens door educatie, verbetering van behandeling en het vinden van een remedie tegen het Barth syndroom. Wij zijn geregistreerd als non-profit organisatie in de Verenigde Staten, Canada, Zuid-Afrika en het Verenigd Koninkrijk. Het Barth syndroom is een ernstige X-gebonden erfelijke aandoening, die vooral jongens en mannen treft. De symptomen kunnen zich in verschillende mate van ernst voordoen en kunnen één of meer van de volgende zijn: cardiomyopathie (hartafwijking), neutropenie (verminderde weerstand tegen infecties), spierzwakte en een groeiachterstand. Lees meer over deze en andere mogelijke symptomen.
  • https://www.barthsyndrome.org/bsf-international/portugues Barth Syndrome Foundation - Portuguës ~ Bem vindo à Fundação do Sindroma de Barth - O nosso objectivo é salvar vidas através da educação, evolução nos tratamentos e procuramos a cura para o sindroma de Barth.

    Country: 64.69.79.21, North America, CA

    City: -123.1139 British Columbia, Canada

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