41. Barth Syndrome barth syndrome (Cardiomyopathy, X Linked, Fatal Infantile; CardioskeletalMyopathyNeutropenia). The barth syndrome Foundation, Inc. The Complete Barth http://www.bdid.com/barth.htm

HOME Barth Syndrome (Cardiomyopathy, X Linked, Fatal Infantile; Cardioskeletal Myopathy-Neutropenia) The Barth Syndrome Foundation, Inc. The Complete Barth Syndrome Homepage Heart Transplantation for Barth Syndrome Barth Syndrome ... HOME

42. Alpers Disease,Progressive Infantile Poliodystrophy,Barth Syndrome Alpers Disease,Progressive Infantile Poliodystrophy,barth syndrome,CardiomyopathyNeutropeniaSyndrome/Lethal Infantile Cardiomyopathy,LIC,Beta-oxidation http://www.icomm.ca/geneinfo/mitoch.htm

43. Definitions Of Genetic Disorders-B. barth syndrome mitoch.htm Bartter s Syndrome bartters.htm Basal Cell Nevus Syndromenbcc.htm Basedow Disease graves.htm BassenKornzweig Syndrome abl.htm http://www.icomm.ca/geneinfo/def-b.htm

44. Cardiac + Myopathy; Cardiomyopathy Xlinked dilated cardiomyopathy (barth syndrome) 4 l Tafazzin (G4.5 gene; Also see Barth-like syndrome with mtRNA Leu mutations; Clinical features http://www.neuro.wustl.edu/neuromuscular/msys/cardiac.html

Front Search Index Links ... Patient Info CARDIAC + MYOPATHY Amyloid Cardiomyopathies Dilated Hypertrophic Isolated Carnitine Disorders ... Drugs Dystrophies Barth Desmin Dystrophinopathies Emery-Dreifuss ... Acid Maltase (Infantile) Branching enzyme Debrancher Lamp-2 Triosephosphate isomerase ... SRP Also see: Selective disorders of cardiac muscle Carnitine Disorders Biochemistry Fatty acid oxidation pathways General principles Multiple acyl–CoA dehydrogenase deficiency Reduced Muscle carnitine uptake ... CPT II deficiency Carnitine Carnitine metabolism: General principles Carnitine Source Dietary 75% Distribution: 90% in muscle Fatty acids are transported from cytoplasm to mitochondria Conversion of fatty acids to Fatty acid-CoA Mitochondrial oxidation of fatty acids provides energy source Chief energy sources for: Prolonged fasting; Skeletal muscle during exercise; Cardiac muscle Types of deficiency Primary: Due to deficient transport of carnitine into cells Secondary Free carnitine acyl-carnitine esters Lost in urine Loss of carnitine results in Reduced Buffering of toxic acyl-CoA esters Inhibition of mitochondrial systems Clinical features: General Coma after a period of starvation Hypoketosis: Low serum ketone concentrations Cardiomyopathy Muscle weakness Specific enzyme defects can include LCAD MCAD Plasma-membrane carnitine transporter Carnitine palmitoyltransferase I (CPT I) CPT II deficiency SCAD deficiency : 2 phenotypes Carnitine deficiency: Myopathic Form l ? Autosomal Recessive

45. Barth Syndrome - St. Joseph Mercy, Ann Arbor Michigan barth syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor, SEMichigan, Washtenaw County, Livingston County, Wayne County, Oakland County, http://www.sjmercyhealth.org/112883.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Barth Syndrome 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

46. A Novel X-linked Gene, G4.5. Is Responsible For Barth Syndrome - Nature Genetics barth syndrome is a severe inherited disorder, often fatal in childhood, barth syndrome clinical features and confirmation of gene localisation to http://www.nature.com/ng/journal/v12/n4/abs/ng0496-385.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0496-385 A novel X-linked gene, . is responsible for Barth syndrome Silvia Bione , Patrizia D'Adamo , Elena Maestrini , Agi K. Gedeon , Pieter A. Bolhuis Institute of Genetics, Biochemistry and Evolution-CNR, 27100 Pavia, Italy. Dept. of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide SA5006, Australia. Academic Medical Centre, Laboratory of Neurology, 1105 AZ Amsterdam, The Nederlands. Correspondence should be addressed to D.T. Barth Syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia. The disease has been mapped to a very gene-rich region in distal portion of Xq28. We now report the identification of unique mutations in one of the genes in this region, termed , expressed at high level in cardiac and skeletal muscle. Different mRNAs can be produced by alternative splicing of the primary

47. Accessing Article barth syndrome (BTHS) is a multisystem disorder of individuals who carry mutations in barth syndrome (BTHS) is an Xlinked disease presenting with http://www.nature.com/labinvest/journal/v85/n6/full/3700274a.html

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? Most users gain access to full text articles through a site license. This is available to institutional customers only. For further information visit the Librarian Gateway. Full-text articles are also available through a number of other options: I want to purchase this article Select this option to view this article immediately and access it for seven days. Price: US$30* In order to purchase this article you must be a registered user. Click here to register or log in above. I want to subscribe to Laboratory Investigation Select this option to purchase a personal subscription. I am already a personal subscriber to Laboratory Investigation Personal subscribers to Laboratory Investigation can view this article. To do this you need to associate your subscription with your registration via the My Account page. If you already have an active online subscription, log in via the login box in the top right-hand corner of this page. I am a member of The United States and Canadian Academy of Pathology Members of USCAP receive access to Modern Pathology and/or Laboratory Investigation as part of their membership.

48. Cardiomyopathy A condition known as barth syndrome, a rare and relatively unknown geneticallylinked (For more information on barth syndrome, visit the barth syndrome http://www.americanheart.org/presenter.jhtml?identifier=4468

49. Barth Syndrome : Rare Disorders : Disorders And Diseases : Health And Fitness barth syndrome (Subscribe). Links. barth syndrome Foundation http//www.barthsyndrome.org. Promotes knowledge about this disease among families, http://www.internet-web-directory.com/Health_and_Fitness/Disorders_and_Diseases/

Skip to Content Login/Register Web Directory by Internet-Web-Directory.com Web Directory Home ... Link Notify Search the entire directory only this category Advanced Search Web Directory Health and Fitness Disorders and Diseases ... Rare Disorders Barth Syndrome Barth Syndrome Subscribe Links Barth Syndrome Foundation http://www.barthsyndrome.org 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. More Details Review It Rate It Bookmark It Sponsor Links Love Romance Dating Gift Ideas at Gifts-Shop.com Internet-Web-Directory.com

50. RDInfo- Research And Development Information Charity Details The barth syndrome Foundations vision is a world in which not one more child Current Awards funded by barth syndrome Foundation, Inc. (and those which http://www.rdinfo.org.uk/queries/ListCharityDetails.asp?CharityID=1551

51. RDInfo - Research And Development Information Details Of The barth syndrome Foundation, Inc. This organisation funds the award(s) listed belowFurther details on the individual award, including contact details, http://www.rdinfo.org.uk/Queries/ListGrantsFromCharity.asp?CharityID=1551&Closin

52. CSHL - Harbor Transcript - Winter/Spring 2002 barth syndrome and Neuwald s Hypothesis From Computer to Clinic Heart andother muscle defects in barth syndrome patients had been traced to abnormal http://www.cshl.edu/public/HT/ws02_neuwald.html

Search  Newsletter Index Transcript Archives Subscribe Barth Syndrome and "Neuwald's Hypothesis": From Computer to Clinic SHL scientist Andy Neuwald uses neither cells, nor beakers, nor pipettes, nor Petri dishes, let alone patients in his research. So how has he recently cracked one area of medical research wide open? With a computer program he wrote called PROBE. "I'm quite happy about it. It was kind of like lightning striking, but in a way that I hope to repeat!" says Andy, referring to how PROBE revealed the probable cause of Barth syndrome, a heritable genetic disease that is often fatal in childhood. Ansy is one of several "bioinformatics" researchers at CSHL. Rather than pipetting their way toward greater understanding of how cells work, Andy and his colleagues program computers to analyze biological data in the digital realm. Consider the following twenty-letter DNA sequence: TCAAAGTGTACTTACCTCGC. No human being can look at that sequence and tell what it means. But plug it into a suitable bioinformatics computer program and watch what happens: It is sent into cyberspace and compared with millions of other sequences in existing databases. In a few seconds, a message returns indicating that this twenty-letter sequence is part of a chicken gene that encodes the protein ovalbumin, better known as egg white. To try this yourself, point your web browser to

53. IngentaConnect Barth Syndrome Without 3-methylglutaconic Aciduria barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and3methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost http://www.ingentaconnect.com/content/tandf/spae/2004/00000093/00000003/art00027

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Barth syndrome without 3-methylglutaconic aciduria Authors: M Rahbek Schmidt ; N Birkebaek ; I Gonzalez ; L Sunde Source: Acta Paediatrica , Volume 93, Number 3, March 2004, pp. 419-421(3) Publisher: Taylor and Francis Ltd View Table of Contents full text options Free trial available! Abstract: Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. Conclusion: A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy. Keywords: Cardiomyopathy congenital heart disease X-linked Document Type: Research article DOI: Affiliations: Department of Pediatrics Aarhus University Hospital Skejby Sygehus Aarhus Denmark Department of Pediatrics and Research du Pont Hospital for Children, Wilmington Delaware Jefferson Medical College Philadelphia Pennsylvania USA

54. Barth Syndrome barth syndrome. this disorder at a glance. disorder name barth syndrome;disorder abbreviation ; gene name TAZ; gene product tafazzin http://www.muscle.ca/content/index.php?id=603

55. William's Story (From 2005) William was born with barth syndrome – a rare but serious genetic disorder A mother who is a carrier of barth syndrome shows no signs or symptoms of the http://www.jeansforgenes.com/2_about/2127_william_story.php

What is Jeans for Genes? About the Charities Why Support Us Personal Stories ... Site Map William is 15 years old and lives with his parents Helen and Michael in Hampshire. Early diagnosis is the key to the survival of people who have Barth syndrome. Those who are not accurately diagnosed have only a 30% chance of living past the first few years of their life. With proper diagnosis at an early age, children have an 85% - 90% chance of survival. This is why awareness of Barth syndrome is so important. Amongst other things, he would from time to time suffer with horrendous mouth ulcers, and was very small and weak for his age. As devastating as this diagnosis was, at least we then had some explanation for it all. At times, we find it hard to think of William with a future. After all, when he was first diagnosed, no boys had ever grown up with Barth Syndrome. He has faced his difficulties with such determination that he is an inspiration to all. Every step along the way has been a milestone and we face each one as it comes.

56. Health Library - outreach, newsletter, referrals, pen pals, and biennial conference. Peer topeer mentoring program. WRITE The barth syndrome Fdn. barth syndrome http://yalenewhavenhealth.org/library/healthguide/en-us/SelfHelp/topic.asp?hwid=

57. MakingContact.org - Linking Families With Disabled Children I have found 1 person listed against barth syndrome, they are listed below, updated 15 Nov 2004, I have a son who has barth syndrome. http://www.makingcontact.org/index.php?ci=166

58. Barth Syndrome - Descipher Health . Table of contents. 1 Synonyms.2 Cause. 3 Population Distribution. 4 Effects. 5 Symptoms. 6 Signs......barth syndrome. From Descipher Health. http://www.descipher.com/health/info/Barth_syndrome

Do you have lab results? Barth syndrome From Descipher Health Description: Table of contents showTocToggle("show","hide") 1 Synonyms 2 Cause 3 Population Distribution 4 Effects ... edit Synonyms cardioskeletal myopathy with neutropenia and abnormal mitochondria, Type II 3-methylglutaconicaciduria, Type II MGA edit Cause edit Population Distribution edit Effects edit Symptoms edit Signs edit Diagnostic Tests edit Differential Diagnosis edit Treatment edit Expected Outcome edit Prevention edit Medical References edit External Links Retrieved from " http://www.descipher.com/health/info/Barth_syndrome Views Article Discussion Edit History Personal tools Create an account or log in Check Lab Results Diseases Labs ... Terms of Service This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

59. Barth Syndrome - Descipher Health . Table of contents. 1 Synonyms. 2 Cause......barth syndrome. From Descipher Health. (Redirected from Type II3methylglutaconicaciduria). http://www.descipher.com/health/info/Type_II_3-methylglutaconicaciduria

Do you have lab results? Barth syndrome From Descipher Health (Redirected from Type II 3-methylglutaconicaciduria Description: Table of contents showTocToggle("show","hide") 1 Synonyms 2 Cause 3 Population Distribution 4 Effects ... edit Synonyms cardioskeletal myopathy with neutropenia and abnormal mitochondria, Type II 3-methylglutaconicaciduria, Type II MGA edit Cause edit Population Distribution edit Effects edit Symptoms edit Signs edit Diagnostic Tests edit Differential Diagnosis edit Treatment edit Expected Outcome edit Prevention edit Medical References edit External Links Retrieved from " http://www.descipher.com/health/info/Barth_syndrome Views Article Discussion Edit History Personal tools Create an account or log in Check Lab Results Diseases Labs ... Terms of Service This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

60. ♥ World Search Engine In Cardiology / Heart Annuaire / Heart Links Director Section européenne du site de la barth syndrome foundation , association crée par Informations sur le Syndrome de Barth, conseils aux parents, forum, http://www.heartandcoeur.com/links/index.php?action=voir&id=240&relatedcat=

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