61. R News As It Happens, Where It Happens krabbe disease Hits Nervous System by Stephanie Dusek/Linda Loy Published Aug06, 2005. krabbe disease is a degenerative disease of the nervous system. http://www.rnews.com/Story_2004.cfm?ID=29328&rnews_story_type=18&category=10

62. Krabbe Disease Hits Nervous System R News Rochester, NY area s ONLY 24 hour local news. Open 24 Hours! http://www.rnews.com/print.cfm?id=29328

63. Cord Blood Transplant In New Jersey Stops Krabbe Disease Progression | Today's S Cord Blood Transplant in New Jersey Stops krabbe disease Progression Stem CellResearch News. http://www.stemnews.com/archives/000587.html

Today's Stem Cell Research Stem Cell Research Medical and Health News Home Stem Cell Companies ... Stem Cell Books Cord Blood Transplant in New Jersey Stops Krabbe Disease Progression Related News: Cord Blood Stem Cells Ashleigh Gwin was diagnosed at 7 months old with Krabbe (krahb-AY) disease. Krabbe Disease is a genetic disorder that is usually fatal by the age of 2 unless treated successfully. Ashleigh, who is now 28 months old, has since undergone a cord blood transplant. The goal of the transplant is to halt the disease's progression. However, unfortunately this procedure cannot undo the damage the disease had caused already. Currently, new born babies are not routinely tested for Krabbe disease unless their parents have had another child with the illness before. Krabbe disease hinders development of the myelin sheath, the covering that protects the brain's nerve fibers. Unless it is treated, Krabbe Disease causes children to lose mental and motor function. Most children are left blind and deaf, usually unable to move or speak.... A new project in New York has the goal of perfecting a screening test that eventually could be given to all newborns. New York state's pilot screening program is progressing well, stated Robert Kenny, a spokesman for the state health department.

64. MSMS Detection Of Krabbe Disease In Newborns - Kenneth Pass, Wadsworth Center, N MSMS Detection of krabbe disease in Newborns a method in which lysosomalstorage disorders (LSD) including krabbe disease could be identified in newborn http://www.wadsworth.org/educate/pass_krabbe.htm

Navigate Wadsworth Center Postdoctural Positions main content Home main content MSMS Detection of Krabbe Disease in Newborns This is a one year development project within the NYS Newborn Screening Program. A report recently published (Li et al, Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening, Clinical Chemistry 50:1785-96, 2004) described a method in which lysosomal storage disorders (LSD) including Krabbe Disease could be identified in newborn infants through mass spectrometric analysis of the dried blood specimen collected for more than 30 other conditions now in the screening panel. Addition of LSDs to the panel would greatly enhance the capabilities of newborn screening and, more importantly, provide an opportunity to provide life-saving therapies for affected infants. This person in this position will take the research protocol and adapt it to the needs of a newborn screening program. The NYS Newborn Screening Program is the largest screening program in the US in terms of test reports issued annually. The program screens in excess of 250,000 newborns each year for 31 congenital conditions (see www.wadsworth.org

65. Rare Pediatric Disease Database WHAT krabbe disease is a rare degenerative disorder of the nervous system WHO krabbe disease is a very rare disorder. The occurrence in the US is 1 in http://www.madisonsfoundation.org/content/3/1/display.asp?did=55

66. The Family Village / Library / Leukodystrophy krabbe disease From Online Mendelian Inheritance in Man (OMIM). Krabbes DiseaseBasic Information From the Krabbes Disease Homepage http://www.familyvillage.wisc.edu/lib_leukodystrophy.html

Leukodystrophy Types of Leukodystophy: Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Leukodystrophy" Who to Contact United Leukodystrophy Foundation (ULF) 2304 Highland Drive Sycamore IL 60718 (815) 895-2432 (fax) E-mail: ulf@tbcnet.com Website: http://www.ulf.org/ This is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease. In addition, it provides assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness; acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. The ULF is supported solely by donations. Where to Go to Chat with Others Yahoo list of leukodystrophy discussion groups Krabbes E-mail Contacts Inborn Errors of Metabolism Discussion Group MLD Support Learn More About It Alexander Disease From Online Mendelian Inheritance in Man (OMIM) Canavan Disease From Online Mendelian Inheritance in Man (OMIM) Krabbe Disease From Online Mendelian Inheritance in Man (OMIM) Krabbes Disease: Basic Information From the Krabbes Disease Homepage Metachromatic Leukodystrophy, Late Infantile

67. PoliBlog: Politics Is The Master Science » Hunter Kelly Succumbs To Krabbe Dise Hunter Kelly Succumbs to krabbe disease. By Dr. Steven Taylor @ 138 pm. Via theAP Jim Kelly’s Son Hunter Dies of Disease. Hunter Kelly, whose battle with http://www.poliblogger.com/?p=7778

68. GALC CM973367, 354, TACgTAG, Tyr-Term, krabbe disease, 9. CM940803, 369, tGAA-TAA,Glu-Term, krabbe disease, 10. CM970561, 380, aCGG-TGG, Arg-Trp http://www.uwcm.ac.uk/uwcm/mg/ns/1/119970.html

GALC Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference TCG-TAG Ser-Term Krabbe disease cGGC-CGC Gly-Arg Krabbe disease TCC-TTC Ser-Phe Krabbe disease CGT-CAT Arg-His Krabbe disease ATAt-ATG Ile-Met Krabbe disease cGGC-AGC Gly-Ser Krabbe disease GGC-GAC Gly-Asp Krabbe disease cACT-GCT Thr-Ala Krabbe disease cATG-TTG Met-Leu Krabbe disease gCGT-TGT Arg-Cys Krabbe disease ? GAT-GTT Asp-Val Krabbe disease GGA-GCA Gly-Ala Krabbe disease gGAG-AAG Glu-Lys Krabbe disease ATA-ACA Ile-Thr Krabbe disease tGCA-ACA Ala-Thr Krabbe disease ACT-ATT Thr-Ile Krabbe disease gGGT-AGT Gly-Ser Krabbe disease GGC-GAC Gly-Asp Krabbe disease AAT-ACT Asn-Thr Krabbe disease TCC-TTC Ser-Phe Krabbe disease TAT-TGT Tyr-Cys Krabbe disease gCCT-GCT Pro-Ala Krabbe disease TAC-TGC Tyr-Cys Krabbe disease TACg-TAG Tyr-Term Krabbe disease tGAA-TAA Glu-Term Krabbe disease aCGG-TGG Arg-Trp Krabbe disease CGG-CTG Arg-Leu Krabbe disease CCT-CTT Pro-Leu Krabbe disease aTGG-GGG Trp-Gly Krabbe disease ACT-AGT Thr-Ser Krabbe disease TTT-TCT Phe-Ser Krabbe disease ACG-ATG Thr-Met Krabbe disease aCGC-TGC Arg-Cys Krabbe disease CGC-CAC Arg-His Krabbe disease cGAT-AAT Asp-Asn Krabbe disease aGGA-AGA Gly-Arg Krabbe disease GTT-GGT Val-Gly Krabbe disease TAC-TCC Tyr-Ser Krabbe disease GCA-GAA Ala-Glu Krabbe disease tGCC-TCC Ala-Ser Krabbe disease ATT-AGT Ile-Ser Krabbe disease ACG-ATG Thr-Met Krabbe disease TTA-TCA Leu-Ser Krabbe disease cGCC-ACC Ala-Thr Krabbe disease CTG-CGG

69. SAS Centre : Assays : Genetic Enzymes : Krabbe Disease Assays / Genetic Enzymes / krabbe disease. This disease (also called globoid cellleucodystrophy) has an onset of 36 months with vague signs of http://www.sas-centre.org/assays/genetic_enzymes/lysstodiskrabbedisease.htm

Supra-Regional Assay Service Centres for Analysis and Clinical Interpretation Assays home about us specialities centres ... Genetic Enzymes Krabbe Disease This disease (also called globoid cell leucodystrophy) has an onset of 3-6 months with vague signs of irritability, hypersensitivity to slight stimuli and some joint stiffness. There is then rapid neurological degeneration with hypertonicity and, later, hypotonicity, blindness and deafness. A peripheral neuropathy is usually present. Symptoms are confined to the nervous system, there being no visceromegaly or skeletal changes. Patients with the classical presentation rarely survive beyond two years, but later onset cases with a more prolonged course are not uncommon. ENZYME TESTS : Deficiency of galactocerebrosidase is the primary defect. Back to Alphabetical List of Assays Available Top of Page Website designed by Paul Littlefield

70. USATODAY.com - Jim Kelly's 8-year-old Son, Hunter, Dies Hunter Kelly was diagnosed with krabbe disease, an inherited degenerative Their son, Hunter, suffered from krabbe disease. By Don Heupel, AP http://www.usatoday.com/sports/football/nfl/bills/2005-08-05-hunter-kelly-obit_x

OAS_listpos = "PageCount,NavBottom120x90,Top728x90,Zaplet1,FloatBottom,Bottom468x60,VerticalBanner,Poster3"; Classifieds: Cars Jobs Dating USA TODAY ... Weather NFL Pro Football home Scores Team reports Standings ... City Guides Other leagues Arena CFL NFL Europe Tools Game matchups Sheridan's odds Live odds Sagarin ratings Indexes Scores Columnist index Sports briefs TV listings ... Sports index Marketplace Baseball Tickets Football Tickets Basketball Tickets Shopping ... Classifieds Posted 8/5/2005 12:46 PM Updated 8/8/2005 12:24 PM Today's Top Sports Stories Giants can't wait for Bonds to return Patriots open NFL season by dumping Raiders 30-20 Federer, Hewitt reach U.S. Open semis Auerbach in hospital for undisclosed illness ... What's this? Buy and sell tickets to premium and sold out events Search by events or regions: Location Select a region Atlanta Baltimore Boston Buffalo California North California South Chicago Cleveland Dallas Denver Detroit Houston Indianapolis Kansas City Las Vegas Miami Milwaukee Minneapolis New Orleans New York Metro Orlando Philadelphia Phoenix Pittsburgh Portland,ME

71. JAX®Mice Database - Mouse/Human Gene Homologs: Globoid Cell Leukodystrophy (Kra Mouse/Human Gene Homologs globoid cell leukodystrophy (krabbe disease) List . Gene Homologs globoid cell leukodystrophy (krabbe disease) http://jaxmice.jax.org/jaxmicedb/html/model_996.shtml

Strain Information Services Information JAX Mice Literature Order Mice ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: globoid cell leukodystrophy (Krabbe disease)" Strains Newly Available for all Mouse/Human Gene Homologs models. Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply B6.CE- Galc twi /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. (1 stocks) Back to top Back to Top Research Research Resources ... The Jackson Laboratory

72. Molecular Characterization Of The Canine Model For Globoid Cell Leukodystrophy ( Globoid cell leukodystrophy (GLD) or krabbe disease is an autosomal recessive There are several animal models for krabbe disease, including the twitcher http://jdc.jefferson.edu/dissertations/AAI9727336/

HOME DISSERTATIONS home about ... Advanced Search Molecular characterization of the canine model for globoid cell leukodystrophy (Krabbe disease) and study of the effects of human polymorphisms on the activity of murine galactocerebrosidase. Teresa Victoria, Thomas Jefferson University Date: 1997 Download the dissertation (PDF format) Tell a colleague about it. Printing Tips : Select "print as image" in the Acrobat print dialog if you have trouble printing. Abstract Subject Area Biology, Genetics; Biology, Molecular; Health Sciences, Pathology HOME ABOUT HELP MY ACCOUNT ... SEARCH

73. Krabbe's Disease, Transplantation Of Umbilical-cord Blood Infants with krabbe disease lack an enzyme necessary for normal myelination ofthe brain These include more than 45 diseases, such as Krabbe s disease, http://www.xagena.it/news/medicinenews_net_news/ac56f8fe9eea3e4a365f29f0f1957c55

Medicine News Drugs Xagena Medicine Xagena.net Krabbe's disease, transplantation of umbilical-cord blood Transplantation of umbilical-cord blood from unrelated donors in newborns with infantile Krabbe's disease favorably altered the natural history of the disease. Transplantation in infants after symptoms had developed did not result in substantive neurologic improvement. " Infants with Krabbe disease lack an enzyme necessary for normal myelination of the brain and peripheral nervous system at the time when myelination is occuring most rapidly. The infants become irritable, loose all their developmental skills, become deaf and blind, have seizures and die. It is very painful for parents to watch their children deteriorate this rapidly. This study shows that finally there's a treatment that offers hope," said Maria Luisa Escolar, the study's lead author and at University of North Carolina ( UNC ) School of Medicine. The study demonstrates that umbilical cord-blood transplant is a life-saving treatment for newborns with infantile Krabbe's disease, an inherited degenerative disorder that affects the nervous system, said Kurtzberg. Most infants with the disease die before reaching age 2.

74. Krabbe Disease - Alegent Health Serving Eastern Nebraska And Southwest Iowa krabbe disease courtesy of Alegent Health serving eastern Nebraska and southwestIowa - Council Bluffs, Iowa - Corning, Iowa - Missouri Valley, http://www.alegent.com/12844.cfm

@import url(default.css); Back to Health Library Print This Page Email to a Friend Krabbe disease Definition: Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (galactosylcereamidase). It results in destruction of myelin , a fatty material that surrounds and insulates many of the nerves. Alternative Names: Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency Causes, incidence, and risk factors: Krabbe disease is inherited as an autosomal recessive trait. It is most common among people of Scandinavian descent, but it generally affects about 1 in 150,000 infants. Absence of the enzyme galactocerebroside beta-galactosidase causes increasing destruction of myelin. This results in progressive destruction of the nervous system. Krabbe disease has an early onset form and a late onset form. In the early form, symptoms begin in the first months of life with feeding problems and failure to thrive , unexplained fevers, and vomiting. Changes in muscle tone are frequent.

75. Arch Neurol -- Infantile Krabbe Disease, November 2003, Korn-Lubetzki And Nevo 6 Pediatric Neurology. •, Collection Email Alerts. Infantile krabbe disease.Isabelle Korn-Lubetzki, MD ; Yoram Nevo, MD. Arch Neurol. 2003;601643-1644. http://archneur.ama-assn.org/cgi/content/extract/60/11/1643

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 60 No. 11, November 2003 Featured Link E-mail Alerts History of Neurology: Seminal Citations Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Korn-Lubetzki I Nevo Y Contact me when this article is cited Topic Collections History of Medicine Pediatric Neurology Topic Collection Alerts Infantile Krabbe Disease Isabelle Korn-Lubetzki, MD Yoram Nevo, MD Arch Neurol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. INTRODUCTION Infantile Krabbe disease is an autosomal recessive leukodystrophy involving both the central and peripheral nervous systems. Its diagnosis can now be established by modern laboratory methods

76. Arch Neurol -- Abstract: Protracted Course Of Krabbe Disease In An Adult Patient Background krabbe disease, or globoid cell leukodystrophy, is an autosomal recessive Objective To describe a 28year-old woman with krabbe disease, http://archneur.ama-assn.org/cgi/content/abstract/56/8/1014

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 56 No. 8, August 1999 Featured Link E-mail Alerts Observation Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Jardim LB Wenger DA Articles that cite this article ISI Web of Science (9) ... Contact me when this article is cited Topic Collections Neurogenetics Topic Collection Alerts Protracted Course of Krabbe Disease in an Adult Patient Bearing a Novel Mutation Laura B. Jardim, MD Roberto Giugliani, MD, PhD Ricardo F. Pires, MD Sergio Haussen, MD Maira G. Burin, MSc Mohammad A. Rafi, PhD David A. Wenger, PhD Arch Neurol. Krabbe disease, or globoid cell leukodystrophy, is an autosomal recessive disorder caused by the deficiency of galactocerebrosidase (GALC) activity. Although most cases

77. WFTV.com - Health - Mother Helps Families Fight Krabbe Disease Children with krabbe disease do not have an enzyme needed for brain There isnot a cure for krabbe disease, but stemcell transplants can slow the http://www.wftv.com/health/2075049/detail.html

Search Make wftv.com Your Homepage Contact WFTV Sign up for E-News HDTV ... Health Email This Story Print This Story Mother Helps Families Fight Krabbe Disease Stem-Cell Transplants Offer Hope For Affected Children UPDATED: 12:52 p.m. EST March 31, 2003 DURHAM, N.C. A mother who lost her son to a rare disease is on a mission to help other children have a chance at life. Kelly Brown's work is helping families all around the world. She lost her son, David, when he was 15 months old to a genetic disorder called Krabbe disease. The average lifespan for Krabbe patients is 13 months, doctors told Brown. David was diagnosed at 6 months old. "I knew it was a terminal illness, but didn't know much about it," said Brown. Children with Krabbe disease do not have an enzyme needed for brain development, which destroys their nervous systems. About 1 in 150,000 infants are diagnosed with the disease, according to the National Institutes of Health. Since her son's death, Brown has started working with Hunter's Hope, a foundation started by former NFL quarterback Jim Kelly, whose son, Hunter, also has Krabbe disease. There is not a cure for Krabbe disease, but stem-cell transplants can slow the disease.

78. World Congress & Exposition On Disabilities - WCD On June 23, 1997, Hunter was diagnosed with krabbe disease (GloboidCellLeukodystrophy). In the years following this diagnosis the Kelly family has http://www.wcdexpo.com/keynotes.cfm

KEYNOTES - FREE We are finishing up the final touches on our keynote line-up. Keynotes will be posted shortly. If you would like us to send you a reminder email when the WCD website is updated please click here In the meantime you can browse our powerful 2004 keynote line-up. 2004 Keynote Review - These events have already taken place. Tim Shriver Special Olympics Founders of The Hunter's Hope Foundation - Pro Football Hall of Famer Special Guest Marc Buoniconti From Tragedy to Triumph General James "Tom" Hill Four Star General Commander, U.S. Southern Command Date: Thursday, October 7th, 2004 Time: Date: Friday, October 8th, 2004 Time: Date: Saturday, October 9th, 2004 Time: Change Attitudes, Change the World New Challenges Advancing Efforts for Newborn Screening Because There is Effective Treatment Transition Challenges for the Military Child with Special Needs Description Dr. Timothy Shriver will discuss the need to revolutionize attitudes and the role of Special Olympics as a platform for this necessary and overdue change.

79. Krabbe Disease MR Imaging and Proton MR Spectroscopy in Adult krabbe disease MR Imaging andProton MR Spectroscopy in Adult krabbe disease Optic Nerve Enlargement in http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=172

80. Infants With Rare Genetic Disease Saved By Cord Blood Stem Cells Researchers report success with krabbe disease patients These disordersinclude more than 45 rare diseases, such as krabbe disease, Hurler syndrome, http://www.dukenews.duke.edu/2005/05/cordblood.html

Browse By Subject:  Campus News Duke in the News Medminute News Releases News Tips Opinion Police News Archived Stories Alumni Arts Business Campus News/Working at Duke Computing and Technology Divinity and Religious Life Duke and Durham Education and Training Engineering Environment and Earth Sciences Events Faculty Health and Medicine Humanities and Social Sciences International Law Natural Sciences Philanthropy and Development Public Policy Research Sports and Athletics Students Related Subject Health and Medicine Showcase Brodhead tells students: Duke education will transform you In his convocation address to first-year students, President Richard H. Brodhead urges students to be courageous in seeking out new learning opportunities Joanne Kurtzberg, director of the pediatric stem cell transplant program Infants With Rare Genetic Disease Saved by Cord Blood Stem Cells Researchers report success with Krabbe disease patients Thursday, May 19, 2005 Print This Page Durham, N.C. Children with a fatal genetic disorder called Krabbe disease can be saved and their brain development preserved if they receive stem cells from umbilical cord blood before symptoms of the disease develop, according to a study published in the May 19, 2005, issue of the New England Journal of Medicine.

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