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Krabbe Disease: more detail

Krabbe's Disease: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-10-08
Krabbe disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Amie, MS Stanley, Rosalyn, MD Carson-DeWitt, 2005
Krabbe Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
Krabbe disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Amie, MS Stanley, 2005
Leukodystrophies: Adrenoleukodystrophy, Canavan Disease, Pelizaeus-Merzbacher Disease, Metachromatic Leukodystrophy, Krabbe Disease
Neurology, lectures for medical students and general practitioners by Knud H Krabbe, 1941
Urolithiasis in dogs and cats by Agnete Krabbe, 1949

lists with details

Disease - Krabbe Disease - Detroit, Michigan
Disease krabbe disease - courtesy of Henry Ford Health System of Detroit, Michigan. Back to main Health Information page Disease - krabbe disease. Definition
http://www.henryfordhealth.org/12220.cfm

Extractions: Back to main Health Information page 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 And Risk: 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.
2718: Mutation Analysis Of Krabbe Disease And Metachromatic Leukodystrophy In Po
Program Nr 2718 Mutation analysis of krabbe disease and Metachromatic Leukodystrophy in Portugal. AML Marcao, OMO Amaral, EM Pinto, MC Sa Miranda.
http://www.faseb.org/genetics/ashg99/f2718.htm
UB News Services
Hunter s Hope Foundation, UB Establish Research Institute to Study krabbe disease, Related Conditions. Release date Friday, May
http://www.buffalo.edu/news/fast-execute.cgi/article-print-page.html?article=673
Krabbe's Kids
A demographics study of the families and children of krabbe's is taking place Please take a look at these other site's dedicated to krabbe's disease.
http://www.krabbes.com/
Krabbe's Disease Information Diseases Database
krabbe's disease Galactosylceramidebeta-galactosidase deficiency Globoid cell leucodystrophy, disease Database Information
http://www.diseasesdatabase.com/ddb29468.htm
LSUSU Gene Therapy Program
The Gene Therapy Program is located in the Department of Medicine and affiliated with the Stanley S. Scott Cancer Center and the Center for Human and Molecular Genetics at Louisiana State University Health Sciences Center at New Orleans. The major aim of the LSUHSC Gene Therapy Program is to develop new therapies for a series of genetic and acquired diseases including Cystic Fibrosis, Hemophilia, krabbe's disease and infectious diseases such as AIDS, TB, and pneumonia.
http://www.medschool.lsumc.edu/GeneTherapy/Default.htm
Krabbe's Disease
Browse entry words starting with A, B, C, D, E, F, G, H, I, J, K, L, M, N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, krabbe s disease,. Print this article,
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/KRABBES DISEASE.

Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Krabbe's disease, (Knud H. Krabbe,18851961, Danish neurologist), neurodegenerative disease associated with lysosomal galactocerebroside galactosidase deficiency. It is one of the leucodystrophies. Infants present clinically with irritability, pyrexia of unknown origin, hypertonia, feeding difficulty, or fits and progressive quadriparesis, become decerebrate and microcephalic. On imaging there is high signal intensity on the periventricular and cerebellar white matter on T2-weighted sequences. See globoid cell leukodystrophy
Krabbe's Disease (globoid Cell Leukodystrophy) - OhioHealth
krabbe s disease is a rare, degenerative disorder of the nervous system, in which a specific enzyme deficiency results in the destruction of myelin, a fatty
http://www.ohiohealth.com/healthreference/reference/2B1520EE-E635-426A-AC8865F6C
Krabbe's Disease (www.whonamedit.com)
krabbe s disease An inborn neurodegenerative disorder of infancy due to the accumulation of galactocerebroside in the tissues. krabbe s disease
http://www.whonamedit.com/synd.cfm/1457.html

Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Diffuse globoid body sclerosis, diffuse globoid cell cerebral scleroris, familial infantile diffuse brain sclerosis, galactocerebroside beta-galactosidase deficiency, galactosyl ceramide lipoidosis, galactosylceramide lipoidosis, globoid cell brain sclerosis, globoid cell cerebral sclerosis, globoid cell leukodystrophy, globoid cell sclerosis, globoid leukodystrophy, leukodystrophia cerebri. An inborn neurodegenerative disorder of infancy due to the accumulation of galactocerebroside in the tissues. This is a result of a primary deficiency of galactocerebrosidase, the white matter of the brain, causing demyelination in the presence of inclusion bodies in the Schwann cells. The acute infantile form (90 percent of cases) is characterized by onset of symptoms before the age of 6 months and death by the end of first year of life, survival beyond 2 years being very rare. Clinically the child fails to thrive and develops seizures, deafness, blindness, cachexia, paralysis, and marked mental deficiency. The disease is assumed to be of genetical nature, but both dominant and recessive types have been described. There is also a rare juvenile and an adult form.
Leukodystrophy, Krabbe's
Deficiency; Galactosylceramide Lipidosis; Galactosylceramidase Deficiency; krabbe s disease; Leukodystrophy, Globoid Cell; Sphingolipidosis
http://my.webmd.com/hw/health_guide_atoz/nord379.asp

Extractions: Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This metabolic disorder is characterized by progressive neurological dysfunction such as mental retardation, paralysis, blindness, deafness and paralysis of certain facial muscles (pseudobulbar palsy). Krabbes Leukodystrophy is inherited as an autosomal recessive trait.
Globoid Cell Leukodystrophy (Krabbe S Disease)
Globoid Cell Leukodystrophy (krabbe s disease). Clinical forms Children with krabbes disease have a more predictable course than with other leukodystrophy.
http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNF5IE02.htm

Extractions: Globoid Cell Leukodystrophy (Krabbe's Disease) NeuroLearn NeuroHelp Metabolic Lysosomal storage disorders, classification ... Gross Pathology BACKGROUND AND CLINICAL INFORMATION Head Summary: Globoid cell leukodystrophy (Krabbes disease, galactosylceramide lipidosis) is an autosomal recessive due to reduced lysosomal galactocerebroside b -galactosidase. The structural gene is on chromosome 14q24-q32. Both peripheral and central nervous systems are involved. Infantile onset is most common but later or adult onset cases have also been described. Clinically features vary with the age of onset. The infantile form is associated with death at 1-2 years of age. Pathologically , the brain is markedly atrophic and shows extensive demyelination associated with large, multinucleated cells (globoid cells). The white matter but not grey matter is predominantly affected. Crystalline needle-like inclusions that correspond to the globoid material are seen under electron microscope. Biochemistry: Mutation of the galactocerebrosidase gene result in reduced enzymatic activity and decreased ability to degrade galactocerebroside that is found almost exclusively in myelin.
Krabbe's Disease - General Practice Notebook
krabbe s disease. krabbe s disease is an autosomal recessive disease caused by a deficiency of galactocerebroside B galactosidase
http://www.gpnotebook.co.uk/cache/-1831862235.htm

Extractions: Krabbe's disease Krabbe's disease is an autosomal recessive disease caused by a deficiency of galactocerebroside B galactosidase which results in an accumulation of galactocerebroside. The patient presents in the first 6 months of life with: Later, the child becomes blind and deaf. The disease is fatal within a year.
GCL, Krabbe's Disease, Globoid Cell Leukodystrophy
Globoid Cell Leukodystrophy GCL aka krabbe s disease by George Jones. Globoid Cell Leukodystrophy is a degenerative disease of the
http://www.barkbytes.com/medical/med0073.htm

Extractions: by George Jones Globoid Cell Leukodystrophy is a degenerative disease of the white matter of the brain and spinal cord, and also tied in with this is the loss of myelin , which is a fatty substance that forms the outer sheath around many nerve cells. What causes this loss is a genetic deficiency of an enzyme that is involved in breaking down certain lipids (fats) in the brain and spinal cord. The clinical signs for GCL are: loss of coordination, failure to recognize familiar individuals (people or other pets), stumbling, blindness, weakness, tail tremors, total limb paralysis, and lack of response to pain. GCL has been found primarily in the bloodlines of West Highland White Terriers and Cairn Terriers, although it has been detected among other breeds as well. It is imperative that breeding stock be checked for this condition due to its being autosomal recessive (genetically passed on from one generation to another). In order for any autosomal recessive characteristic to appear in an offspring, both parents must either be carriers, or have the recessive characteristic. A blood test can determine the carrier (s) of this disease.
Dictionary Definition Of KRABBE'S DISEASE
disease. Medical dictionary. Browse Dictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A B C D E F G H I
http://www.dictionarybarn.com/KRABBES-DISEASE.php
Looking For Info. On Krabbe S Disease
Looking for info. on krabbe s disease. This article submitted by on 1/14/99. Email Address Any info. would be greatly appreciated.
http://neuro-www.mgh.harvard.edu/forum/MitochondrialDis.F/1.14.994.59PMLookingfo
Health.iafrica.com | Doc Online | Ask The Doctor | Genetic Illness Krabbe's Dise
GENETIC ILLNESS krabbe s disease Posted Tue, 30 May 2000. Question. What is krabbe s disease? Answer. krabbe s disease is one
http://health.iafrica.com/doconline/qa/genetic/krabbes_disease.htm

Extractions: Communities: [ h o m e ] Africa Afrikaans Aids Wise Business Cars Careers Cooltech Dating Easy Money Festive Fever Entertainment Fun Stuff Games Highlife Men Motoring My Money News Sport Talk Travel Weather Win Women Services: Book Airtickets Car Hire Chat Online Classifieds Directories Ecards Homeloans Mobile Magic myiafrica.com Shop Online Search Posted Tue, 30 May 2000 Question What is Krabbe's disease? Answer Krabbe's disease is one of a rare, inheritable group of diseases known as lipidoses, which are disorders of lipid metabolism due to deficiencies in the enzymes which digest lipids. Others include Tay-Sachs Disease, generalised gangliosidosis and sulfatide lipidosis. Krabbe's disease, also known as galactosylceramide lipidosis, is a fatal disease, which occurs in infancy. The symptoms are progressive retardation, paralysis, blindness and deafness. It is due to a deficiency of the enzyme galactocerebroside ß-galactosidase. These can be tested for prenatally by sampling amniotic fluid or the chorionic villi. There is no treatment yet known.
Brain And Tissue Bank For Developmental Disorders
Developmental Disorders, Links to Summaries for Disorder krabbe s disease. UMB ID , AGE. UMB_0575, 1 year 144 days. UMB_1163, 39 years 107 days.
http://medschool.umaryland.edu/BTBank/Krabbe's_Disease.htm
Nation's Restaurant News: Hunter's Hope Foundation Helps Fight Krabbe's Disease
You are Here Articles Nation s Restaurant News August 21, 2000 Article. Hunter s Hope Foundation helps fight krabbe s disease.
http://www.findarticles.com/cf_dls/m3190/34_34/64704047/p1/article.jhtml

Extractions: BUFFALO, N.Y. A week-long fundraiser at the Buffalo Wild Wings Grill and Bar on Transit Rd. here, raised $1,640 for Hunter's Hope Foundation, a non-profit group created by NFL Buffalo Bills celebrity quarterback Jim Kelly to fund research and therapy for Krabbe's disease. The mid-July event featured an appearance by Kelly who autographed memorabilia for fans and judged the restaurant's Cluck-Off" wing-eating contest. The amount raised came from a portion of sales for the week as well as revenue from the sale of paper pin-up footballs, according to general manager Bob Sikorski.
Krabbes Disease Homepage (CJ's Page)
elcome to our site! This site is devoted to our son CJ and all the other children with Krabbes disease. CJ was diagnosed with Krabbes
http://members.aol.com/GETINMERRY/krabbes.html

Extractions: We are Chuck, Jenn and CJ. 3 1/2 years ago we were blessed with a beautiful daughter we named Samantha. Samantha was tested for Krabbes and found to be a carrier but not affected. We live just outside Buffalo, NY. We both work full time jobs, but different shifts so one of us is always home with CJ. We have never been away from CJ for more than a few hours because child care is nearly impossible to obtain. CJ is an unusual case; he is extremely old for an infantile case of Krabbes.
Call Again Soon
Call Again Soon TM. Leukodystrophy is killing my son Joey. He has neonatal adrenoleukodystrophy. It stole all of his sight and most
http://www.ziplink.net/~pepe/Leuko.htm

Extractions: Call Again Soon TM Leukodystrophy is killing my son Joey. He has neonatal adrenoleukodystrophy. It stole all of his sight and most of his hearing by the time he was eighteen months old. The Call Again Soon is dedicated to Joey. We encourage the exchange of information about the Leukodystrophies. We invite you to submit URL's relating to Leukodystrophy for inclusion in this site. Chemical Leukodystrophy Best Source for Deaf-Blind Information Great Medical Links Leukodystrophy Info from FamilyVillage ... Myelin Project Leave E-Mail for Joe Johnson

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