1. Krabbe Disease Information Page: National Institute Of Neurological Disorders An krabbe disease information sheet compiled by NINDS. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Krabbe Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Krabbe Disease NINDS Krabbe Disease Information Page Synonym(s): Globoid Cell Leukodystrophy Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Krabbe Disease? Is there any treatment? What is the prognosis? What research is being done? ... Additional resources from MEDLINEplus What is Krabbe Disease? leukodystrophies galactocerebrosidase , an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness. Is there any treatment?

2. NINDS Forwarding Page A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/health_and_medical/disorders/krabbe_doc.htm

NINDS has redesigned its website and the URL for the page you were seeking has changed. The new URL for this page is /disorders/krabbe/krabbe.htm . Please update your bookmark to this page. You will be automatically taken to this page in 5 seconds, or you can click the link to go there now.

3. Krabbe Disease Information Page National Institute Of krabbe disease information sheet compiled by NINDS. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Krabbe Disease Press Releases: National Institute Of Neurological Disorders And krabbe disease information sheet compiled by NINDS. http://www.ninds.nih.gov/disorders/krabbe/press_krabbe.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Krabbe Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Krabbe Disease Sorry! There are no press releases for: Krabbe Disease. Use your browser's Back button to return to your previous activity. National Institute of Neurological Disorders and Stroke Home About NINDS Disorders Funding ... Accessibility

5. Krabbes Disease Homepage (CJ's Page) Krabbes disease. CJ was diagnosed with Krabbes at 5 months old; he is now 6 1/2 years old. When CJ was diagnosed with this horrible disease http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Krabbe Disease - Genetics Home Reference Where can I find additional information about krabbe disease? What if I stillhave specific questions about krabbe disease? http://ghr.nlm.nih.gov/condition=krabbedisease

Home What's New Browse Handbook ... Search Krabbe disease Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Krabbe disease On this page: What is Krabbe disease? How common is Krabbe disease? ... help with understanding Krabbe disease? What is Krabbe disease? Krabbe disease is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in defective myelin, the covering that insulates many nerves. Krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin. Krabbe disease usually begins before the age of 1 year (early-onset form). Initial signs and symptoms often include feeding difficulties, episodes of unexplained fever, stiff posture, and developmental delay. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and mental retardation. Less commonly, onset can occur in later in childhood, adolescence, or adulthood (late-onset form). How common is Krabbe disease?

7. Hunter's Hope Foundation Formed in honor of infant son, Hunter, who was diagnosed with krabbe disease (GloboidCell Leukodystrophy). Supports research on this and other leukodystrophies. Includes disease information, family registry, and other resources. http://www.huntershope.org/

About Us Krabbe Disease Research Families ... Links Established in 1997 by Pro Football Hall of Fame member and former Buffalo Bills Quarterback, Jim Kelly, and his wife, Jill, after their infant son, Hunter, was diagnosed with Krabbe Leukodystrophy, an inherited, fatal, nervous system disease. The Foundation is the Kelly's life long commitment to increase public awareness of leukodystrophies as well as to increase the likelihood of early detection and treatment. Their ultimate goal is to raise money to fund research efforts to identify new treatments, therapies, and a cure for Krabbe and other leukodystrophies. In The News! Research partly funded by Hunter's Hope is published in the New England Journal of Medicine! Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease makes headlines around the nation! Newborn Screening Get your Hunter's Hope UNBS Bracelet Today! Next Upcoming Event: Hunter's Hope Family Fun Run September 24, Orchard Park, NY info@huntershope.org Site design and implementation by Algonquin Studios

8. Introduction To Leukodystrophy Cerebrotendinous Xanthomatosis (CTX) krabbe disease (Globoid Cell Leukodystrophy) Metachromatic Leukodystrophy (MLD) http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Krabbe Disease - Educational Resources - Information Pages - Genetics Home Refer information in the Genetics Home Reference condition summary on krabbe disease.Institute of Child Health (UK) Krabbe s leucodystrophy (infantile form) http://ghr.nlm.nih.gov/condition=krabbedisease/show/Educational resources

Home What's New Browse Handbook ... Search Krabbe disease Back to condition summary Krabbe disease Educational resources - Information pages These resources supplement the information in the Genetics Home Reference condition summary on Krabbe disease. Institute of Child Health (UK): Krabbe's leucodystrophy (infantile form) Institute of Child Health (UK): Krabbe's leucodystrophy (late-onset) ... Center Last Comprehensive Review: February 2005 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.

10. Facts About Krabbe Disease _Approximately 2 million people (or one out of 5) in the United States are carriers of the genetic deficiency that causes krabbe disease. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Krabbe's Kids Please take a look at these other site's dedicated to Krabbe's Disease. This site designed and donated by Greg Erika Sears http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Krabbe Disease-Dalton And Anthony's Home Page krabbe disease Anthony and Dalton s Home Page. The Miracle Of Life You see, both of my boys were diagnosed with krabbe disease, which is a rare http://members.aol.com/TOMDIA22/

Thomas "Anthony" Shell and Dalton Glenn Shell Krabbe Disease... Anthony and Dalton's Home Page " The Miracle Of Lif e" This page is dedicated to the memory of our son, Anthony, and in honor of our son, Dalton. Our little boys have opened our eyes to a new way to live our lives...Cherish every day with your precious little ones, for who knows what tomorrow brings! My name is Dianna Greene. I want to tell you about my boys, Anthony and Dalton They are the reason for my web page. You see, both of my boys were diagnosed with Krabbe disease, which is a rare genetics disorder that is proven fatal. This we know because we lost Anthony to it. Unlike most children with infantile Krabbe, Dalton has had a second chance at life. He received a bone marrow transplant at 2 month old from his twin sister, Dakota, in order to try to replace an enzyme his brain wasn't able to make. Dalton is now 7 years old and as to date, his transplant has been a success. He has a normal enzyme level and continues to show improvement. Dalton has been followed for a case study by Dr. William Krivit at the University of Minnesota Hospital. Dr. Krivit published his study in

13. GeneReviews Krabbe Disease Your browser does not support HTML frames so you must view krabbe disease in a slightly less readable form. Please follow this link to do so. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. GeneReviews: Krabbe Disease Your browser does not support HTML frames so you must view krabbe disease in aslightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/krabbe/

Your browser does not support HTML frames so you must view Krabbe Disease in a slightly less readable form. Please follow this link to do so.

15. Hunter's Hope Foundation Formed in honor of infant son, Hunter, who was diagnosed with krabbe disease (GloboidCell Leukodystrophy). Supports research on this and other http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. EMedicine - Krabbe Disease : Article By David H Tegay, DO, FACMG krabbe disease krabbe disease is an autosomal recessive sphingolipidosis causedby deficient activity of the lysosomal hydrolase galactosylceramide http://www.emedicine.com/PED/topic2892.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Krabbe Disease Last Updated: May 26, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: galactocerebrosidase deficiency, galactosylceramide beta-galactosidase deficiency, GALC deficiency, globoid cell leukodystrophy, Krabbe's disease, infantile irritability, hypertonia, hyperesthesia, psychomotor arrest, galactosylceramide lipidosis, diffuse infantile familial sclerosis, myelin sheath disorders, sphingolipidosis AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: David H Tegay, DO, FACMG , Assistant Professor of Pediatrics and Internal Medicine, Co-Director, Division of Medical Genetics, Stony Brook University Hospital Coauthor(s): Shari Fallet, DO , Chief, Division of Genetics, Assistant Clinical Professor of Human Genetics and Pediatrics, Children's Hospital of New Jersey at Newark Beth Israel Medical Center David H Tegay, DO, FACMG, is a member of the following medical societies:

17. Krabbe's Family Network A support site serving families dealing with krabbe disease and other leukodystrophies. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Hunter's Hope: Krabbe Disease Hunter’s Hope is our lifelong commitment to increase public awareness of Krabbedisease and other leukodystrophies, so that other children may have early http://www.huntershope.org/krabbe/default.asp

About Us Krabbe Disease Research Families ... Newborn Screening Krabbe Disease One in 100,000 live births in the United States are afflicted with Krabbe Disease. Approximately 2 million people (or one out of 125) in the United States are carriers of the genetic deficiency that causes Krabbe Disease. Yet, awareness about this disease is very limited. Until recently the only treatment options were limited to symptom management and palliative care. Now, a new and revolutionary treatment, Cord Blood Transplant , is saving the lives of many sick, young children and babies. This new method of treatment is bringing new hope to those afflicted with a variety of diseases including Krabbe, other Leukodystrophies and Lysosomal Storage Disorders. info@huntershope.org Site design and implementation by Algonquin Studios

19. Boston.com / Sports / Football / Jim Kelly's `hero ' Hunter, Turns Jim Kelly's `hero ' Hunter, turns 7, defying krabbe disease. By John Wawrow, AP Sports Writer, 2/13/2004 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. Hunter's Hope: What Is Krabbe Disease? Hunter’s Hope is our lifelong commitment to increase public awareness of Krabbedisease and other leukodystrophies, so that other children may have early http://www.huntershope.org/krabbe/whatis_krabbe.asp

About Us Krabbe Disease Research Families ... Newborn Screening What is Krabbe Disease? Globoid Cell Leukodystrophy, more commonly known as Krabbe (crab a) Disease, is an inherited neurodegenerative lysosomal enzyme disorder affecting the central and peripheral nervous systems. Children who inherit the disorder lack an important enzyme (GALC) that is needed for the production of normal myelin (white matter) in the central and peripheral nervous systems. Myelin is the protective covering of the nerve cells and acts like insulation surrounding an electric wire. When the enzyme GALC is deficient it produces toxic substances in the brain, causing myelin loss, change to brain cells, and neurological damage. Progression of the disorder is rapid and death occurs in early childhood. The Cause Behind Krabbe Disease Krabbe disease is inherited in an autosomal recessive manner. If both parents carry a disease-causing mutation in the GALC gene there is a 25 percent chance of having a Krabbe affected child with each conception, a 50 percent chance that each offspring will be a carrier and a 25 percent chance of having a child who does not carry a disease causing mutation. This genetic disease is found in all ethnic groups. The carrier rate in the general population is estimated to be 1 in 125. Krabbe Disease occurs in about 1 in 100,000 births in the United States. Diagnosis can easily be made by testing the white cells from a blood sample for GALC activity.

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