Barth Syndrome barth syndrome BSF. The barth syndrome Foundation requests applicationsfor funding for research on the natural history, biochemical http://vpr2.admin.arizona.edu/rso/02051509.htm
Extractions: BARTH SYNDROME - BSF The Barth Syndrome Foundation requests applications for funding for research on the natural history, biochemical basis, and treatment of Barth syndrome, an X-linked recessive, cardioskeletal myopathy associated with neutropenia, growth delay, and diverse biochemical abnormalities. Grants may be used as seed money for the testing of initial hypotheses and collection of preliminary data. Awards provide $10,000 to $40,000 for 1 or 2 years. Contact: Kate McCurdy, BSF, P.O. Box 618, Larchmont, NY 10538. E-mail: kmccurdy@barthsyndrome.org Web: http://www.barthsyndrome.org/links_research.htm Deadline: 30 June 2002 for letters of intent; 1 November 2002 for invited full applications. RSO Reference No.:
Barth Syndrome : Meddie Health Search ITEMS LINKS barth syndrome Family Network Offers details about thedisease, message board, research sites, events and private chats. http://www.meddie.com/search/Health/Conditions_and_Diseases/Rare_Disorders/Barth
NORD - National Organization For Rare Disorders, Inc. barth syndrome. To purchase fulltext report ($7.50) Copyright 2000 Synonymsof barth syndrome 3-Methylglutaconic Aciduria, Type II (MGA, Type II); http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth Syndrom
Barth Syndrome HOME barth syndrome (Cardiomyopathy, X Linked, Fatal Infantile; CardioskeletalMyopathyNeutropenia). The barth syndrome Foundation, Inc. http://www.bdid.com/barth.htm
Barth Syndrome Foundation Return to Search Page barth syndrome Foundation. PO Box 974 Perry, FL 32348 Conditionsbarth syndrome. Contact Name ShelleyBowen Contact Title President. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Bart
BSF Family Registration Form Areas of Interest with barth syndrome Foundation. Areas of Interestwith barth syndrome Foundation (select all that apply) List http://readyapps.memberclicks.com/apps/100/app_267/application.asp
Extractions: Family Registration Form Contact Information Father/Guardian First Name: MI Father/Guardian Surname: Mother/Guardian First Name: MI Mother/Guardian Surname: Legal Guardians? Yes No Share name information with other families? Yes No Other family member First Name MI Surname: Relationship to Affected child Please Choose One Aunt Uncle Cousin Family Friend Grandfather Grandmother Street Address 1: Street Address 2: City: State/Province: Country Zip/Postal Code: Share address information with other families? Yes No Phone: Ext.: Fax: Email 1: Email contact name: Email 2: Email contact name: Website: Preferred manner of contact: Email Fax Mail Phone Best time to call you? Share this info with other families? Yes No
BSF Physician/Educator Registration Form Member of The barth syndrome Foundation, Inc., Scientific Medical Advisory Board,Yes No. Currently follow individual with barth syndrome, Yes No. http://readyapps.memberclicks.com/apps/100/app_270/application.asp
Extractions: Physician/Education Registration Form Contact Information Physician/Educator First Name: MI Surname: Title (e.g. Dr., Mr., Ms.): Designation (s) (e.g. PhD, M.D.) Affiliated Institution: Specialty Please Choose One Pediatric Cardiology Pediatric Hematology Pediatric Gastroenterology Pediatric Immunologist Pediatrician Pediatric Endocrinologist Pediatric Intensivist Pediatric Metabologist Pediatric Neurologist Geneticist Dietition Physical Therapist Occupational Therapist Speech Pathologist/Therapist Physiatrist Pediatric Orthopedist Pediatric Pulmonologist Anesthesiologist Pediatric Surgeon Biochemist Genetic Counselor Pediatric Urologist Other (Please Specify) Nurse (specify area of specialty) Pediatric Emergency Care Special Education Educator If Other, provide details here: Street Address 1: Address 2: City: State/Province: Country Zip/Postal Code: Share this info? BSF only Educators Family Members Physicians Phone: Ext: Fax: Email 1: Email contact name: Email 2: Email contact name: Website: Preferred manner of contact: Email Fax Mail Phone Best time to call you? Share this info?
CSHL - Harbor Transcript - Winter/Spring 2002 barth syndrome and Neuwald's Hypothesis From Computer to Clinic. The tafazzingene had been shown to be mutated in patients afflicted with barth syndrome. http://www.cshl.org/public/HT/ws02_neuwald.html
Extractions: Subscribe 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
Extractions: Carnitine Distribution: 90% in muscle Fatty acids are transported from cytoplasm to mitochondria Mitochondrial oxidation of fatty acids provides energy source Chief energy sources for: Prolonged fasting; Skeletal muscle during exercise; Cardiac muscle Types of deficiency Loss of carnitine results in Clinical features: General Specific enzyme defects can include
Resources 2004 Howard Lane Austin TX 78728 Tel 866SDS-4999 (737-4999) 800-288-5582 Fax 512-251-3315barth syndrome barth syndrome Foundation PO Box 23173 Lincoln, NE http://www.neuro.wustl.edu/neuromuscular/over/resource.htm
Extractions: 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 >> Also due: OCT 1 MAR 1 >> Also due: OCT29 MAR31 >> Also due: OCT29 MAR31 >> Also due: JAN15
ChattanoogaNow | Chattanooga Times Free Press Benjamin has a rare genetic disorder called barth syndrome that causes heart problems,muscle weakness and poor immunity in males, said Dr. Cathy Stevens http://www.timesfreepress.com/2002/jul/31jul02/webLN31BarthSyndrome.html
Extractions: Wednesday, July 31, 2002 Doctor solves family's rare genetic health mystery Doctor solves family's rare genetic health mystery" By Carolyne Park Staff Writer Shelia Mann said she was uneasy throughout her pregnancy with her son Benjamin. Unlike her daughter English, born earlier, Benjamin did not move around much in the womb and he was a boy. For generations, male children had died in her family at very young ages, Mrs. Mann said. Her brother had died at 3 months old, and her sister had lost her 5-day-old son. The cause of the deaths was a mystery. "We knew there was something going on with our males, we just didn't know what," she said. Then, when Benjamin was about 6 months old, the family finally got a diagnosis. Benjamin has a rare genetic disorder called Barth syndrome that causes heart problems, muscle weakness and poor immunity in males, said Dr. Cathy Stevens, director of medical genetics at T.C. Thompson Children's Hospital. Chances of having the disorder are about one in 400,000, Dr. Stevens said.
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Fundopps For Bio Sci Funding Opportunities for Bio Sci. 3. DATE 05/16/2002. FROM ZOTMAIL@uci.edu.02392 barth syndrome Foundation. TO RGS Fundopp Subscribers http://www.bio.uci.edu/fundopps/grants061402_3.html
Mioti: Medical Condition Condition barth syndrome. barth syndrome Foundation. Today, barth syndromeis a rarely understood, frequently fatal, genetic disorder affecting boys . http://www.mioti.com/cat/condition/condition.asp?Cat=BarthSyndrome
A Novel Mutation In The G4.5 (TAZ) Gene In A Kindred With Barth Syndrome Short Report. A novel mutation in the G4.5 (TAZ) gene in a kindred with Barthsyndrome. barth syndrome Clinical observation and genetic linkage studies. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v11/n1/full/520092
