www.barthsyndrome.org Review:


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 f�r Barth Syndrom. Wir sind eine registrierte gemeinn�tzige Organisation in den Vereinigten Staaten, Kanada, S�dafrika und Gro�britannien.
  • https://www.barthsyndrome.org/bsf-international/Espanol Barth Syndrome Foundation - Espa�ol ~ Bienvenidos a la Fundaci�n del S�ndrome de Barth - Estamos dedicamos a salvar vidas por medio de educaci�n, avances en tratamiento, y la b�squeda de una cura para el s�ndrome de Barth. Estamos inscritos como organizaci�n sin fines de lucro en los Estados Unidos, Canad�, Sud�frica e Inglaterra. El s�ndrome de Barth es una enfermedad seria ligada al cromosoma X y que afecta principalmente a varones. Los s�ntomas incluyen uno o m�s de los siguientes, con diferentes grados de severidad: miocardiopat�a (m�sculo card�aco d�bil), neutropenia (sistema inmune d�bil), debilidad muscular, y crecimiento retrasado. Lea m�s acerca de �stos y otros posibles s�ntomas.
  • https://www.barthsyndrome.org/bsf-international/francais Barth Syndrome Foundation - Fran�ais ~ Bienvenue � la Barth Syndrome Foundation - Nous nous consacrons � sauver des vies gr�ce � l�information, aux avanc�es dans les traitements et � la recherche d�un rem�de contre le Syndrome de Barth. Nous sommes reconnus par l�Etat comme une organisation � 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 g�n�tique li�e � l�X, qui touche essentiellement les gar�ons. Elle se manifeste par un ou plusieurs des sympt�mes suivants, � diff�rents degr�s : cardiomyopathie (faiblesse du muscle cardiaque), neutrop�nie (d�ficience du syst�me immunitaire), faiblesse musculaire et retard de croissance. Vous trouverez sur ce site des informations suppl�mentaires � propos de ces sympt�mes et d�autres sympt�mes possibles.
  • https://www.barthsyndrome.org/bsf-international/italiano Barth Syndrome Foundation - Italiano ~ Benvenuti alla Fondazione sulla Sindrome di Barth - La sindrome di Barth � una grave malattia genetica, la cui trasmissione � 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 funzionalit� 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 ��n 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 - Portugu�s ~ Bem vindo � Funda��o do Sindroma de Barth - O nosso objectivo � salvar vidas atrav�s da educa��o, evolu��o nos tratamentos e procuramos a cura para o sindroma de Barth.

    Country:, North America, CA

    City: -123.1139 British Columbia, Canada

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