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

41. Krabbe Disease Definition - Medical Dictionary Definitions Of Popular Medical Te
Online Medical Dictionary and glossary with medical definitions.
http://www.medterms.com/script/main/art.asp?articlekey=21076

42. Krabbe Disease
krabbe disease. Synonym(s) Globoid Cell Leukodystrophy. What is krabbe disease?krabbe disease is a rare, degenerative disorder of the central and
http://www.clevelandclinic.org/health/health-info/docs/1200/1293.asp?index=6039&

43. Show-documents.asp
krabbe disease (Globoid Cell Leukodystrophy) Written Information. Care Treatment. krabbe disease New Search Contact Us Disclaimer Send This Link
http://www.clevelandclinic.org/health/search/do-query.asp?TopicId=1315

44. Article: NINDS Krabbe Disease Information Page: NINDS - WrongDiagnosis.com
Medical article NINDS krabbe disease Information Page NINDS including all symptom,diagnosis, misdiagnosis, treatment and prevention information.
http://www.wrongdiagnosis.com/artic/ninds_krabbe_disease_information_page_ninds.
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NINDS Krabbe Disease Information Page: NINDS
Article title: NINDS Krabbe Disease Information Page: NINDS Main condition: Krabbe Disease Conditions: Krabbe Disease What is Krabbé Disease? Krabbé disease is a rare, degenerative disorder of the central and peripheral nervous systems. It is one of a group of genetic disorders called the leukodystrophies that affect the growth of the myelin sheath, the fatty covering-which acts as an insulator-on nerve fibers in the brain. Symptoms vary in prevalence and severity among patients and may include loss of previously attained developmental skills, unexplained fevers, irritability, myoclonic seizures (sudden, shock-like contractions of the limbs), blindness, spasticity (stiffness of the limbs), and paralysis. Prolonged weight loss may occur also. Onset of the disorder generally occurs at 3 to 6 months of age, but juvenile and even adult-onset patients are known. Is there any treatment?

45. Introduction: Krabbé Disease - WrongDiagnosis.com
Introduction to Krabbé Disease as a medical condition including symptoms, diagnosis, 1. excerpt from NINDS krabbe disease Information Page NINDS
http://www.wrongdiagnosis.com/k/krabbe_disease/intro.htm
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Krabbé Disease
Next sections Basic Summary for Krabbé Disease Prevalence and Incidence of Krabbé Disease Prognosis of Krabbé Disease Symptoms of Krabbé Disease ... Treatments for Krabbé Disease Next chapters: Landau-Kleffner Syndrome Megalencephaly Melkersson-Rosenthal Syndrome Menkes Disease ... Feedback
Introduction: Krabbé Disease
Krabbé Disease: Brain myelin disorder with various symptoms. Krabbé Disease: Krabbé disease is a rare, degenerative disorder of the central and peripheral nervous systems. It is one of a group of genetic disorders called the leukodystrophies that affect the growth of the myelin sheath, the fatty covering-which acts as an insulator-on nerve fibers in the brain. Researching symptoms of Krabbé Disease: Further information about the symptoms of Krabbé Disease is available including a list of symptoms of Krabbé Disease , or alternatively return to research other symptoms in the symptom center Treatments for Krabbé Disease: Various information is available about treatments available for Krabbé Disease , or research treatments for other diseases.

46. AllRefer Health - Krabbe Disease Treatment (Galactosylcereamidase Deficiency, Ga
krabbe disease (Galactosylcereamidase Deficiency, GalactosylcerebrosidaseDeficiency, Globoid Cell Leukodystrophy) information center covers Treatment.
http://health.allrefer.com/health/krabbe-disease-treatment.html

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Alternate Names : Galactosylcereamidase Deficiency, Galactosylcerebrosidase Deficiency, Globoid Cell Leukodystrophy Krabbe Disease Treatment There is no specific treatment for Krabbe disease. Bone marrow transplantation (with its own risks) has been attempted in early stages of the disease. It is too early to know if the new bone marrow can fully restore the brain to health in the small number of patients who have had this treatment. In the future there may be 'enzyme replacement therapy,' but it is in the early stages of development as of 2003. Prevention by prenatal or genetic testing is available.

47. AllRefer Health - Krabbe Disease Prevention (Galactosylcereamidase Deficiency, G
krabbe disease (Galactosylcereamidase Deficiency, GalactosylcerebrosidaseDeficiency, Globoid Cell Leukodystrophy) information center covers Prevention.
http://health.allrefer.com/health/krabbe-disease-prevention.html

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Alternate Names : Galactosylcereamidase Deficiency, Galactosylcerebrosidase Deficiency, Globoid Cell Leukodystrophy Krabbe Disease Prevention Genetic counseling is recommended for prospective parents with a family history of Krabbe disease. Whether you are a carrier for the disease can be determined by testing your white blood cells or skin cells for decreased galactocerebroside beta-galactosidase levels. Prenatal diagnosis is possible by measuring galactocerebroside beta-galactosidase levels in cultured amniotic fluid cells or from cultured chorionic villi cells.

48. The DRM WebWatcher: Krabbes Disease
bullet krabbe disease Technical information from Online Mendelian Inheritance in The pages include information about krabbe disease, a message board,
http://www.disabilityresources.org/KRABBES.html
Home Subjects States Librarians ... Contact Us The DRM WebWatcher Krabbe Disease Updated 12/17/2003 A B C D ... About/Hint/Link
A form of leukodystrophy , Krabbes disease is a rare genetic disorder of the central and peripheral nervous systems. This condition has become more widely known since football hero Jim Kelly had a child with Drabbes disease. Here are some resources for information and help.
Krabbe Disease
Technical information from Online Mendelian Inheritance in Man (OMIM).
Krabbes Disease Homepage (CJ's site)
This web site of the parents of a child with Krabbes disease includes information about Krabbe's disease (including downloadable documents), support and suggestions for other parents, family information and photos, and links.
Krabbe's Family Network
Although the owner/author of this nicely designed web site is anonymous, which is often a cause for concern, it seemed to meet its stated goal of creating "a free, accessible support network and resource guide for any parent or family in need of information or assistance while dealing with Krabbe Leukodystrophy." The pages include information about Krabbe disease, a message board, family stories, links, and tips.
Related subjects:
Leukodystrophy
Rare Disorders
Resources in your state
(c) 1997-2005 Disability Resources, inc.

49. Short Description Of Cell Lines. Pathology: Krabbe Disease *245200
Pathology krabbe disease *245200 OMIM record. By selecting the cell line name,you will receive the detailed description of the cell line
http://www.biotech.ist.unige.it/cldb/pat105.html
Version
Short description of cell lines.
Pathology: Krabbe disease
OMIM record
By selecting the cell line name , you will receive the detailed description of the cell line
By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines
You can search any term of the list by using the 'Find' utility of your browser
human, Caucasian
amnion GEIMM
human, Caucasian
...
By Beatrice...

50. IRSC - Rare Disorders, Krabbe Disease
The Internet Resources for Special Children (IRSC) Global disABILITY resourceis dedicated to communicating information relating to the needs of children
http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca

51. IRSC - Rare Disorders, Krabbe Disease
The Internet Resources for Special Children (IRSC) Global disABILITY resourceis dedicated to communicating information relating to the needs of children
http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca

52. KRABBE DISEASE: Contact A Family - For Families With Disabled Children: Informat
Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders.
http://www.cafamily.org.uk/Direct/k24.html
printer friendly KRABBE DISEASE home how we can help medical information index of conditions ... how you can help Did you find this page
helpful?
yes no Krabbe disease is a rare genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies. The term leukodystrophy comes from the Greek words, 'leuko' meaning white, and referring to the 'white matter' of the nervous system. This is a fatty cover which acts as an insulator around nerve fibres of the brain. The word 'dystrophy' means imperfect growth or development. In Krabbe disease the growth of the white matter (otherwise known as myelin sheath) is affected. Each nerve in the body is surrounded by myelin sheath. This transmits the electrical impulses to every other nerve in the body. Myelin sheath is a made up of a number of chemicals and Krabbe disease is caused by reduced activity of an enzyme known as galactocerebrosidease (GALC). This enzyme is coded for by a gene on chromosome 14. In addition to the infantile form of Krabbe disease, there are also juvenile and adult forms. Although older infants and juveniles with the disorder regress at an unpredictable rate, all will become severely incapacitated. Some adolescents and adults have symptoms confined to weakness, without intellectual deterioration, others become bedridden and continue to deteriorate mentally and physically. Adults may present with loss in manual dexterity, burning paraesthesia (numbness or tingling) in extremities, weakness and dementia. It is nearly impossible to predict the life expectancy of a newly diagnosed older infantile, juvenile, adolescent or adult patient.

53. Partners Leukodystrophy Service At MGH
1983), mimics the krabbe disease phenotype. These mice develop normally until 22days then twitch their heads, develop paralysis and die at around day 45
http://fisher.mgh.harvard.edu/leuko/globoid.html

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  • (Neonatal) Adrenoleukodystrophy and (Pseudoneonatal) Adrenoleukodystrophy ...
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    Epidemiology
    It is rare. There is significant clustering of the disease among the Druze community in Israel.
    Clinical Features:
    90% of patients present, before 6 months of age, with central and peripheral nervous system disease. These infants develop fevers, myoclonic seizures, blindness, spasticity and paralysis and usually die before their second birthday. The remaining 10% can develop disease at any age, with adults sometimes presenting with a painful peripheral neuropathy. Return to top
    Testing
    Radiology
    The disease has a radiologically characteristic pattern:
    Biochemistry
    The diagnosis is made by assaying the activity of galctosylcerebrosidase.
    Pathology Krabbe is pathologically characterized by oligodendroglial apoptosis, severe gliosis and large, multinucleated (globoid) cells which arise from microglia (Suzuki and Tanaka 1976). Return to top
    Etiology
    Broad Overview
    Characterized by the accumulation of psychosin (glactosphingosine), which is the substrate for galactocerebroside beta-galactosidase, the enzyme whose activity is deficient in this disorder.

54. Indian Pediatrics - Editorial
Conclusion krabbe disease should be considered in the differential diagnosis TABLE 1–Clinical Features and Investigations in Infantile krabbe disease.
http://www.indianpediatrics.net/sept2000/sept-939-946.htm
Home Past Issue About IP About IAP ... Subscription Original Articles Indian Pediatrics 2000;37: 939-946 Krabbe Disease - Clinical Profile
Milind S. Tullu, Mamta N. Muranjan, Pratima P. Kondurkar and
Burjor A. Bharucha*
From the Genetics Division, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai 400 012, Maharashtra, India. * Deceased
Reprint requests: Dr. Mamta N. Muranjan, 3rd Floor, 16-B, Naushir Bharucha Marg, Tardeo, Mumbai 400 007, India. E-mail: drsuji@vsnl.com Manuscript received: December 28, 1999; Initial review completed: February 8, 2000;
Revision accepted: April 13, 2000. Objective: To study clinical features and investigations of children with Krabbe Disease (KD). Design: Retrospective. Setting: Genetic Clinic of a tertiary care teaching hospital. Methods: Hospital records of patients with enzymatically confirmed KD were analyzed with respect to their clinical features and investigations including neuroimaging (CT-scan and/or MRI). Galactocerebrosidase (GALC) activity was estimated photometrically in the peripheral blood leukocytes. Results: Nine children (age ranging from 2½ months to 8 years) were studied, of which 5 had the classical infantile disease, 3 had late infantile form and one was diagnosed as juvenile KD. GALC levels in peripheral blood leukocytes were low or absent in all. Most of the children with infantile disease presented with neurodegeneration, seizures or fever. Optic atrophy was uncommon in our series (present only in a single case). Majority of the cases had elevated cerebrospinal fluid (CSF) protein levels and peripheral neuropathy on nerve conduction (NC) studies. Findings typical of KD were noted in 7 patients who underwent magnetic resonance imaging (MRI). The sole patient with juvenile disease presented with developmental delay and progressive spastic quadriparesis.

55. Newborn Screening For Krabbe Disease Petition
Newborn Screening For krabbe disease Petition, hosted at PetitionOnline.com.
http://www.petitiononline.com/3018/petition.html
Newborn Screening For Krabbe Disease
View Current Signatures Sign the Petition To: U.S. Congress and Mississippi Senate Sincerely, The Undersigned View Current Signatures
The Newborn Screening For Krabbe Disease Petition to U.S. Congress and Mississippi Senate was created by and written by Randy Tuggle www.PetitionOnline.com as a public service. There is no endorsement of this petition, express or implied, by Artifice, Inc. or our sponsors. For technical support please use our simple Petition Help form. Send this to a friend Send Petition to a Friend Petition FAQ Start a Petition ... Search http://www.PetitionOnline.com/3018/petition.html
Artifice, Inc.

56. Add Krabbe Disease To Newborn Screening Petition
Add krabbe disease to newborn screening Petition, hosted at PetitionOnline.com.
http://www.petitiononline.com/krabbe/petition.html
Add Krabbe disease to newborn screening
View Current Signatures Sign the Petition To: PARLIAMENT~Ottawa~
What if you could save a life of a child just by adding a test to the already tested for genetic diseases at birth (newborn screening).
This petition is to add Krabbe disease (globoid cell leukodystroy) to the list of genetic disease already tested for at birth (newborn screening).
Krabbe disease (globoid cell leukodystroy) is a terminal disease with a life expencancy of 8-16 months, with 80% being babies most children do not make it to 2 years. There is a treatment now for Krabbe disease and this treatment has been successful in several Krabbe babies, this treatment gives our children hope for a future. However, only if diagnosed prior to symptoms can this treatment be successful. We must test our babies at birth so no other babies will have to die from Krabbe disease.
We are sending these signatures to the Provincial Government/Provincial Health Care system as well as the federal Government.
Sincerely

57. Krabbe's Disease
krabbe disease This one is odd. We have seen such a wide spectrum of cases with In the case of krabbe disease, the defect is even more damaging than an
http://www.pediatric-orthopedics.com/Topics/Muscle_Neuro/Diseases/KRABBE_DISEASE
Krabbe Disease Krabbe Disease This one is odd. We have seen such a wide spectrum of cases with this diagnosis that one wonders if the details are as worked out as the literature would have you believe. The defect is in galactos yl ceramid ase I, an enzyme which removes the sugar called galactose from galactosyl sphingosine . Look at the Lipids and Membranes sections to get a feel for how utterly basic to cell membrane function these substances are. The differing tweaks of similar phospholipids - tall oil molecules wearing a water seeking cap. In the case of Krabbe Disease, the defect is even more damaging than an absence of one of many variations on a membrane oil. The defect disallows a specific substance (called by many names including psychosine ) to build up. That substance is cell toxic and causes cells to die. Irritability, sustained muscle tone in the first year of life are typical. But there are late diagnoses as well. Fevers without apparent cause are also seen. We have seen children with the diagnostic enzyme defect who are relatively well save for some 'heel cord' contracture similar to mild spastic diplegia. Perhaps there are mixes or percentage of involved cell population issues. The general experience is usually far more serious.

58. Krabbe Disease: Neurophysiologic Studies And MRI Correlations -- Husain Et Al. 6
Background krabbe disease (KD) is a rare hereditary leukodystrophy affecting Conclusions Children with early infantile krabbe disease and lateonset
http://www.neurology.org/cgi/content/abstract/63/4/617
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Leukodystrophies

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NEUROLOGY 2004;63:617-620
American Academy of Neurology
Krabbe disease
Neurophysiologic studies and MRI correlations
Aatif M. Husain, MD Maha Altuwaijri, MA and Mohammed Aldosari, MD From the Departments of Medicine (Neurology) (Dr. Husain) and Pediatrics (Pediatric Neurology) (Dr. Aldosari), Duke University, and Neurodiagnostic Center (Dr. Husain), Veterans Affairs Medical Center, Durham, and School of Pharmacy (M. Altuwaijri), Campbell University, Buies Creek, NC. Address correspondence and reprint requests to Dr. A.M. Husain, Duke University Medical Center, 202 Bell Bldg., Box 3678, Durham, NC 27710; e-mail: Background: Krabbe disease (KD) is a rare hereditary leukodystrophy affecting children mostly in the first 6 months of life; later

59. Neurology -- Sign In Page
Krabbe’s disease or globoidcell leukodystrophy is an autosomal recessive Localization of the krabbe disease gene (GALC) on chromosome 14 by multipoint
http://www.neurology.org/cgi/content/full/54/12/2348
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60. Krabbe
1Up Health krabbe disease or Globoid Cell Leukodystrophy Info - Details thecauses, signs, National Center for Biotechnology Info - Krabbe s Disease
http://www.health-nexus.com/krabbe1.htm
The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here
Krabbe
Krabbe's Family Network The area most affected by this is the central nervous system. The CNS controls such things as Breathing, body temperature, and all other automatic body functions are controlled by the CNS. There are two types of Krabbe's. Most common is the infantile form. The second type affects children and adults.
Krabbe's Kids Browse through a gallery of photos, stories and bios of children diagnosed with the fatal disease known as Krabbe's leukodystrophy. ... Toi Imamure. Krabbe. Demographic. Study. sponsored by. Hunter's...
1Up Health - Krabbe Disease or Globoid Cell Leukodystrophy Info Details the causes, signs, complications, prevention, risks, tests, symptoms, treatment, and support groups of this galactosylcereamidase deficiency.
Hunter's Hope.org

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