21. GeneDis Globoid Cell Leukodystrophy (Krabbe) Mutations GeneDis Human Genetic Disease Database. krabbe disease. Scientificeditor Prof. Gideon GeneDis Website for krabbe disease. Krabbe http://life2.tau.ac.il/GeneDis/Tables/Krabbe/krabbe.html

GeneDis Human Gene tic Dis ease Database Krabbe Disease Scientific editor: Prof. Gideon Bach Head of Department of Human Genetics,Hadassah University Hospital, Jerusalem, Israel. Database coordinator: Dr. Rachel Kreisberg-Zakarin Bioinformatics Unit , G.S. Wise Faculty of Life Sciences, Tel-Aviv University, Israel. GeneDis Website for Krabbe Disease Krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and the peripheral nervous systems due to mutations in the GALC gene. T he GeneDis web site for Krabbe disease includes the wild type primary sequences of the GALC gene and protein. Known mutations are incorporated in the gene and in the protein sequences using hyperlinks. Users can compare GALC DNA or protein sequences to the wild type hyperlinked sequences present in GeneDis. The pairwise alignment output retains the hyperlinks, which enable the user to browse through the Krabbe mutation table. The mutation table shows the location of the mutation on the cDNA, genomic DNA and protein sequences, the number of exon or intron, the severity of the disease associated with the mutation and a reference in which the mutation was first described. Go to "Search the Krabbe Disease Database with your primary DNA or protein sequence" Go to "GeneDis Homepage" Visit the Krabbe Disease database at " Locus Specific Mutation Databases Disease Description Krabbe disease (Globoid Cell Leukodystrophy, GLD) is an autosomal recessive neurodegenerative disorder (

22. Krabbe Disease krabbe disease. Definition Krabbe Causes, incidence, and risk factorskrabbe disease is inherited as an autosomal recessive trait. It http://www.pennhealth.com/ency/article/001198.htm

Disease Injury Nutrition Poison ... Prevention Krabbe disease Definition: Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (i.e., galactosylcereamidase) and resulting 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 has a higher incidence 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 . The end result is a progressive destruction of the nervous system. Krabbe disease, like many other storage diseases, 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, and

23. Krabbe Disease krabbe disease. Alternative Names Globoid cell leukodystrophy Treatment Thereis no specific treatment for krabbe disease. Bone marrow transplantation http://www.pennhealth.com/ency/article/001198trt.htm

Disease Injury Nutrition Poison ... Prevention Krabbe disease Alternative Names: Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency 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 late 2001. Prevention, for example by prenatal or genetic testing, is available. Support Groups: United Leukodystrophy Foundation - (800) 728-5483 Expectations (prognosis): The outcome is likely to be poor. For example, infantile-onset cases die before 2 years of age on average. Later onset cases have survived into adulthood with neurologic disease. Complications: Progressive central nervous system degeneration occurs. Blindness, deafness, and severe disturbances of muscle tone can result. The disease is usually fatal. Calling your health care provider: Call your health care provider if your child develops symptoms of this disorder.

24. The DRM WebWatcher: Krabbes Disease Here are some resources for information and help. krabbe disease Technicalinformation from Online Mendelian Inheritance in Man (OMIM). http://www.disabilityresources.org/KRABBES.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Krabbe Disease Updated 4/18/2000 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. Krabbe Disease A fact sheet from the National Institute of Neurological Disorders and Stroke.

25. 1Up Health > Krabbe Disease > Causes, Incidence, And Risk Factors Of Krabbe Dise Comprehesive information on krabbe disease (Galactosylcereamidase deficiency,Galactosylcerebrosidase deficiency, Globoid cell leukodystrophy). http://www.1uphealth.com/health/krabbe_disease_info.html

1Up Health Krabbe disease Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Krabbe disease Information Krabbe disease Causes, Incidence, and Risk Factors Alternative names : Galactosylcereamidase deficiency, Galactosylcerebrosidase deficiency, Globoid cell leukodystrophy Definition : Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (i.e., galactosylcereamidase) and resulting in destruction of myelin (a fatty material that surrounds and insulates many of the nerves). Causes, Incidence, and Risk Factors Krabbe disease is inherited as an autosomal recessive trait. It has a higher incidence 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 . The end result is a progressive destruction of the nervous system. Krabbe disease, like many other storage diseases, 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, and

26. The Contact A Family Directory - KRABBE DISEASE printer friendly, krabbe disease, krabbe disease is a rare genetic,degenerative disorder of the nervous system. It is one of a group http://www.cafamily.org.uk/Direct/k24.html

printer friendly KRABBE DISEASE home more about us in your area conditions information ... how you can help search this site 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.

27. CCHS Clinical Digital Library krabbe disease Clinical Resources. Miscellaneous krabbe disease Clinical ResourcesHealth Reviews for Primary Care Providers on the Internet Homepage http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingoli

Clinical Resources by Topic: Metabolic Disorders Krabbe Disease Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources ... Krabbe Disease Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document The Leukodystrophies: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):

28. Arch Neurol -- Page Not Found Protracted Course of krabbe disease in an Adult Patient Bearing a Novel MutationAuthor Information Laura B. Jardim, MD; Roberto Giugliani, MD, PhD; Ricardo F http://archneur.ama-assn.org/issues/v56n8/abs/nob8085.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

29. NINDS Krabbe Disease Information Page More about NINDS krabbe disease Information Page. Content for this page. NINDSkrabbe disease Information Page. Synonym(s) Globoid Cell Leukodystrophy. http://accessible.ninds.nih.gov/health_and_medical/disorders/krabbe_doc.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Krabbe Disease Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Krabbe Disease Information Page Synonym(s): Globoid Cell Leukodystrophy Reviewed 11-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Krabbé Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations 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

30. Article : KRABBE DISEASE ; Author : H Singh ; Co-Author(s) : V Khanna, V Maurya, Letter to the Editor krabbe disease. Sir,. Finelli DA, Tarr RW, Sawyer RN. Deceptivelynormal MR in early infantile krabbe disease, AJNR 1994;15167171. http://www.ijri.org/current_issue/letter_298.htm

Letter to the Editor KRABBE DISEASE Sir, Inherited leukodystrophies are neurodegenerative disorders that primarily involve the brain white matter. They are caused by genetic defects that result in the abnormal synthesis, maintenance or catabolism of CNS myelin. Those with an early infantile onset include Krabbe disease (KD) or globoid cell leukodystrophy (GLD), Pelizaeus Merzbacher disease, Canavan disease and Alexander disease. KD is a rare autosomal recessive disorder resulting from the deficiency of the lysosomal enzyme galactocerebrosidase (GALC) [1]. Diagnostic protocol in these cases includes cerebro-spinal fluid analysis, nerve conduction studies, neuroimaging and GALC assay in peripheral blood leukocytes or cultured skin fibroblasts. Fig.1 : Axial CT section at the level of the lateral ventricles shows symmetrical hyperdensities involving the caudate, thalami and optic radiation Fig.2: CT section at a higher ventricular level shows periventricular hyperdensities

31. Leucodistrofie/GLOBOID CELL LEUKODYSTROPHY Or KRABBE's DISEASE v) LEUCODISTROFIA A CELLULE GLOBOIDALI o MORBO DI KRABBE (GLOBOID CELL LEUKODYSTROPHYor KRABBE's DISEASE). DESCRIPTION. 0001 krabbe disease GALC, GLU369TER. http://www.peacelink.it/appeal/gianmarco/v.html

a) Parametri Genetici delle Neuropatie Sensomotorie Ereditarie (HMSN) v) LEUCODISTROFIA A CELLULE GLOBOIDALI o MORBO DI KRABBE (GLOBOID CELL LEUKODYSTROPHY or KRABBE's DISEASE) DESCRIPTION In the early infantile form of Krabbe disease, onset occurs at 4 to 6 months of age. Definitive diagnosis of this disorder, which clinically can be so similar to several other encephalopathies of infancy, is made by finding characteristic 'globoid cells' in brain tissue. These cells, derived from monocyte-macrophage stem cells of the bone marrow, contain accumulated psychosine as well as galactosylceramide. The disorder is due to mutations of the gene encoding glycosylceramidase (GALC). CLINICAL FEATURES Nelson et al. (1963) observed 3 affected sibs. A somewhat similar state was described in 3 adult sibs by Ferraro (1927), but this may be a genetically distinct condition. See discussion of Menkes (1963) and of Norman et al. (1961). D'Agostino et al. (1963) concluded that the initial histologic manifestation of the disease is the presence of PAS-positive material extracellularly and cerithin in microglial cells, which later appear as globoid cells. First-cousin parents were noted by Van Gehuchten (1956). Many have described affected sibs.

32. Krabbe('s) Disease (Globoid Cell Leukodystrophy) Galactosylceramidosis). Krabbe's Family Network; Krabbes Disease Homepage (CJ'spage); Krabbes Disease; krabbe disease; krabbe disease; krabbe disease. HOME http://www.bdid.com/krabbe.htm

HOME Krabbe('s) Disease (Globoid Cell Leukodystrophy, Galactosylceramidosis) Krabbe's Family Network Krabbes Disease Homepage (CJ's page) Krabbes Disease KRABBE DISEASE ... HOME

33. Krabbe Disease krabbe disease. This disease (also called globoid cell leucodystrophy)has an onset of 36 months with vague signs of irritability http://www.sas-centre.org/genetic/genpages/lysstodiskrabbedisease.htm

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.

34. BENCHMARK Analysis Of Krabbe Disease BENCHMARK analysis of krabbe disease, G2D Home. GO TO A set of 44 papers relatedto this disease was derived from MEDLINE using the query krabbe disease . http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?028

35. The Family Village / Library / Leukodystrophy Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Category Health Conditions and Diseases Leukodystrophy...... Canavan Disease From Online Mendelian Inheritance in Man (OMIM). Canavan's DiseaseFrom PEDBASE. krabbe disease From Online Mendelian Inheritance in Man (OMIM). 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 AltaVista 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 ULF List of Online Discussion Groups Krabbes E-mail Contacts Inborn Errors of Metabolism Discussion Groups Learn More About It Adrenoleukodystrophy From PEDBASE Alexander Disease From Online Mendelian Inheritance in Man (OMIM) Canavan Disease From Online Mendelian Inheritance in Man (OMIM) Canavan's Disease From PEDBASE Krabbe Disease From Online Mendelian Inheritance in Man (OMIM) Krabbes Disease: Basic Information From the Krabbes Disease Homepage Metachromatic Leukodystrophy From PEDBASE

36. References For Krabbe Disease With The MeSH Term Gaucher Disease References for krabbe disease with the MeSH term Gaucher Disease, G2D Home.PMID and date. Follow the link to see the corresponding entry by PubMed http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Gaucher_Disease:028:

37. Health Ency.: Disease: Krabbe Disease krabbe disease. many of the nerves). Causes and Risks. krabbe diseaseis inherited as an autosomal recessive trait. It has a higher http://www.austin360.com/shared/health/adam/ency/article/001198.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease K Krabbe disease Overview Symptoms Treatment Prevention Alternative names: Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency Definition: Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (i.e., galactosylcereamidase) and resulting in destruction of myelin (a fatty material that surrounds and insulates many of the nerves). Causes and Risks Krabbe disease is inherited as an autosomal recessive trait. It has a higher incidence 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 . The end result is a progressive destruction of the nervous system. Krabbe disease, like many other storage diseases, 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, and

38. Health Ency.: Disease: Krabbe Disease krabbe disease. Treatment. There is no specific treatment for Krabbedisease. Bone marrow transplantation (with its own risks) has http://www.austin360.com/shared/health/adam/ency/article/001198trt.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease K Krabbe disease Overview Symptoms Treatment Prevention Alternative names: Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency 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 late 2001. Prevention, for example by prenatal or genetic testing, is available. Prognosis The outcome is likely to be poor. For example, infantile-onset cases die before 2 years of age on average. Later onset cases have survived into adulthood with neurologic disease. Complications Progressive central nervous system degeneration occurs. Blindness, deafness, and severe disturbances of muscle tone can result. The disease is usually fatal. Call Your Health Care Provider If: Call your health care provider if your child develops symptoms of this disorder.

39. ClinicalTrials.gov - Linking Patients To Medical Research: Results Search results for krabbe disease ALLFIELDS are shown below. Show all trials,including those no longer recruiting patients. 5 studies were found. http://www.clinicaltrials.gov/search/term=Krabbe Disease

Home Search Browse Resources ... About Search results for Krabbe Disease [ALL-FIELDS] are shown below. Show all trials, including those no longer recruiting patients. 5 studies were found. Recruiting Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Conditions: I Cell Disease; Fucosidosis; Globoid Cell Leukodystrophy; Adrenoleukodystrophy; Mannosidosis; Niemann-Pick Disease; Pulmonary Complications; ... Recruiting Phase II Study of Allogeneic Bone Marrow or Umbilical Cord Blood Transplantation in Patients With Lysosomal or Peroxisomal Inborn Errors of Metabolism Conditions: Graft Versus Host Disease; Lysosomal Storage Diseases; Peroxisomal Disorders Recruiting Long-Term Effects of HIV Exposure and Infection in Children Condition: HIV Infections Recruiting A Study to Collect Information About HIV-Positive Pregnant Women and Their Babies Conditions: HIV Infections; Pregnancy Recruiting BMS-232632 Used in Combination with Other Anti-HIV Drugs in HIV-Infected Infants, Children, and Adolescents Condition: HIV Infections U.S. National Library of Medicine

40. ClinicalTrials.gov - Linking Patients To Medical Research Search Query Details. No studies were found for NINDS krabbe disease Information Page ALLFIELDS. KrabbeDisease ALL-FIELDS, TryIt! Information ALL-FIELDS, TryIt! http://www.clinicaltrials.gov/search/term=NINDS Krabbe Disease Information Page

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