21. GeneDis Globoid Cell Leukodystrophy (Krabbe) Mutations krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and the peripheral nervous systems due to mutations http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Krabbe Disease Article describes krabbe disease, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/cs/krabbedisease/a/020104.htm

var zLb=4; var zIoa1 = new Array('Suggested Reading','Internet links on Krabbe disease','http://rarediseases.about.com/cs/krabbedisease'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Information by Disease Type Brain and Nervous System Krabbe Disease Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Suggested Reading Internet links on Krabbe disease Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55') Krabbe Disease From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter.

23. Krabbe Disease Links to articles, information, and resources for krabbe disease. http://rarediseases.about.com/cs/krabbedisease/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Krabbe Disease Guide picks An enzyme deficiency in this disorder leads to toxic build-ups of substances in the body. Krabbe Disease Feature article describes Krabbe disease, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. NINDS: Krabbe Disease Information about the disorder and links to resources from the National Institute for Neurological Disorders and Stroke (U.S.). Hunter's Hope: What is Krabbe Disease? The Hunter's Hope Foundation was 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 Disease. Site offers information about the disorder, resources, and support. Krabbe's Family Network Site offers information, message board, family stories, resources, child care tips, and news.

24. Demographic Study Some children have already been transplanted for krabbe disease with great success.This is an INTERNATIONAL STUDY. There are several researchers currently http://www.krabbes.com/demographic_study/

Krabbe Demographic Study We are collecting the data in this study first and foremost to advocate for Newborn Screening for Krabbe Leukodystrophy. With Newborn Screening families can seek effective treatment which halts the disease process by supplying the missing enzyme through stem cell transplantation. Some children have already been transplanted for Krabbe disease with great success. Th is is an INTERNATIONAL STUDY. There are several researchers currently working on a test that will detect Krabbe Disease at birth. In order to make newborn screening for this disease a reality we must show a prevalence rate for Krabbe Leukodystrophy. By participating in this study we are proving that this disease has an incidence rate that will warrant testing at birth. In the United States the incidence rate is 1 in 100,000 births. In Sweden it is 1 in 25,000 births. The Druze people of Israel have an incidence rate of 6 in 1000 births. Sicily Italy, Japan and Australia have also shown that there is a high birthrate of babies born with Krabbe disease in those countries. In finding children from all over the world we are able to show that this disease is much more common than once believed. The second reason for the study is to expand awareness and support amongst families who have been affected by Krabbe. There is an optional box to check below to let us know if you would for this information to be provided to other families. Raising awareness about the disease helps the family to have more support, better care for the child and understanding of the disease. It also provides support to families who have already lost a child to Krabbe. Raising awareness is a key component in making Newborn Screening a reality.

25. Krabbe Disease krabbe disease is a rare, degenerative disorder of the central and peripheralnervous systems. http://healthlink.mcw.edu/article/921771775.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Krabbe Disease Krabbe 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. Although there is no cure for Krabbe disease, bone marrow transplantation is being studied as a possible therapy for mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. The prognosis for individuals with Krabbe disease is poor. The disorder is generally fatal before age 2.

26. GeneDis Globoid Cell Leukodystrophy (Krabbe) Mutations The GeneDis web site for krabbe disease includes the wild type primary sequences of Go to Search the krabbe disease Database with your primary DNA or 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 (

27. OMIM - KRABBE DISEASE http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245200

28. ► Krabbe Disease A medical encycopedia article on the topic krabbe disease. http://www.umm.edu/ency/article/001198.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Krabbe disease Overview Symptoms Treatment Prevention 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

29. Krabbe Disease - Wikipedia, The Free Encyclopedia krabbe disease, is a rare, often fatal degenerative disorder that affects the Worldwide, krabbe disease occurs in about 1 in 100000 to 200000 births. http://en.wikipedia.org/wiki/Krabbe's_disease

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Krabbe disease From Wikipedia, the free encyclopedia. (Redirected from Krabbe's disease Krabbe disease (also known as globoid cell leukodystrophy ) is a rare, often fatal degenerative disorder that affects the nervous system . This condition is inherited in an autosomal recessive pattern. Worldwide, Krabbe disease occurs in about 1 in 100,000–200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated communities in Israel Krabbe disease is caused by mutations in the GALC gene , which causes a deficiency of an enzyme called galactosylceramidase. This enzyme deficiency results in a shortage of myelin , the covering that insulates many nerves . As part of a group of disorders known as leukodystrophies , Krabbe disease results from the imperfect growth and development of myelin. Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, fevers , limb stiffness, seizures , feeding difficulties, vomiting , and slowing of mental and motor development. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.

30. Krabbe Disease - Wikipedia, The Free Encyclopedia krabbe disease, is a rare, often fatal degenerative disorder that affects the Also known as Globoid Cell Leukodystrophy krabbe disease is caused by http://en.wikipedia.org/wiki/Globoid_Cell_Leukodystrophy

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Krabbe disease From Wikipedia, the free encyclopedia. (Redirected from Globoid Cell Leukodystrophy Krabbe disease (also known as globoid cell leukodystrophy ) is a rare, often fatal degenerative disorder that affects the nervous system . This condition is inherited in an autosomal recessive pattern. Worldwide, Krabbe disease occurs in about 1 in 100,000–200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated communities in Israel Krabbe disease is caused by mutations in the GALC gene , which causes a deficiency of an enzyme called galactosylceramidase. This enzyme deficiency results in a shortage of myelin , the covering that insulates many nerves . As part of a group of disorders known as leukodystrophies , Krabbe disease results from the imperfect growth and development of myelin. Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, fevers , limb stiffness, seizures , feeding difficulties, vomiting , and slowing of mental and motor development. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.

31. Krabbe Disease krabbe disease is an inherited disorder characterized by a deficiency of thegalactocerebroside betagalactosidase (galactosylcereamidase). http://www.healthscout.com/ency/1/001198.html

Search HealthScout Web MEDLINE Special Offers TV Specials Chronic Pain Erectile Dysfunction GERD Diabetes ... High Tech Health Top Features Bipolar Disorder Resources Sleep Skin Cancer Migraines ... Diabetes Health Organizer Resources Healthscout News 3D Health Animations Health Videos Health Encyclopedia ... Drug Library Drug Information Drug Search Drug Interactions Image Database Pill Identifier Channels Home Today Women Men ... Drug Checker Medical Health Encyclopedia Krabbe disease Injury Disease Nutrition Poison ... Prevention 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

32. Article : KRABBE DISEASE ; Author : H Singh ; Co-Author(s) : V Khanna, V Maurya, Deceptively normal MR in early infantile krabbe disease, AJNR 1994;15167171.Krivit W. Shapiro EG, Peters C, Wagner JE, Cornu G. Kurtzberg J. http://www.ijri.org/articles/archives/2002-12-2/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

33. Www.krabbes.net/ krabbe diseasekrabbe disease. krabbe disease. Defective galactocerebroside betagalactosidaseenzyme results in krabbe disease. What is krabbe disease? http://www.krabbes.net/

34. Infants With Krabbe Disease Saved By Cord Blood Stem Cells ? Children with a fatal genetic disorder called krabbe disease can be saved andtheir brain development preserved if they receive stem cells from umbilical http://www.news-medical.net/?id=10237

35. CCHS Clinical Digital Library krabbe disease Access document. United Leukodystrophy Foundation Homepage Miscellaneous krabbe disease Patient/Family Resources http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphing

Patient/Family Resources by Topic: Metabolic Disorders Krabbe Disease Patient/Family Resources Spanish Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Krabbe Disease Clinical Resources National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Krabbe Disease: Access document United Leukodystrophy Foundation: Homepage Introductions to the Leukodystrophies: Access document Krabbe Disease: Access document MedlinePlus Medical Encyclopedia: Table of contents Krabbe Disease: English Spanish Spanish MedlinePlus Medical Encyclopedia: Table of contents Krabbe Disease: English Spanish Miscellaneous Krabbe Disease Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Leukodystrophy: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents MedlinePlus (National Library of Medicine) Health Topics: Index Genetic Testing: List of documents Prenatal Testing: List of documents Genetic Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Krabbes Disease Additional Krabbes Disease resources ( These sites have not been reviewed.

36. CCHS Clinical Digital Library krabbe disease Access document. Online Mendelian Inheritance in Man Homepage.krabbe disease Access document. Clinical Guidelines 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 16th Ed.-2005: Table of contents Health Sciences Library subscription INFO Chapter 340. Lysosomal Storage Diseases: Table of contents Introduction: Access document Further Reading: Access document Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents Health Sciences Library subscription INFO Part V - Host Defense and its Disorders: Access document Chapter 49 - Lysosomal Storage Diseases: Perspectives 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 References: Access document Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult):

37. MedlinePlus Medical Encyclopedia: Krabbe Disease krabbe disease is an inherited disorder characterized by a deficiency of the enzyme krabbe disease is inherited as an autosomal recessive trait. http://www.nlm.nih.gov/medlineplus/ency/article/001198.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Krabbe disease Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency Definition Return to top Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (galactosylcereamidase). Deficiency of this enzyme causes the death of brain cells, a process that underlies the symptoms seen in Krabbe. Causes, incidence, and risk factors Return to top 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 myelinated neurons. 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

38. Krabbe Disease KrabbeDisease.com A site that shares information about Globoid Cell Leukodystrophyor krabbe disease. Information was obtained from several sources http://www.reference.com/Dir/Health/Conditions_and_Diseases/K/Krabbe_Disease/

Dictionary Thesaurus Encyclopedia Web Home Premium: Sign up Login YOUR AD HERE Dictionary ... Encyclopedia - Web Directory Web Directory Top Health Conditions and Diseases K / Krabbe Disease 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. Hunter's Hope Was formed in September 1997, after their infant son, Hunter, was diagnosed with Krabbe disease (Globoid-Cell Leukodystrophy). To date they have raised over two million dollars to further research on Krabbes and other Leukodystrophies. Krabbe-Disease.com A site that shares information about Globoid Cell Leukodystrophy or Krabbe Disease. Information was obtained from several sources parents of children with Krabbe, physicians, researchers, medical texts and medical websites. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Lexico Publishing Group, LLC

39. Krabbe Disease Medical Information krabbe disease Information from Drugs.com. krabbe disease is an inheriteddisorder characterized by a deficiency of the enzyme galactocerebroside http://www.drugs.com/enc/krabbe_disease.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Krabbe disease Injury Disease Nutrition Poison ... Z Krabbe disease Definition Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (galactosylcereamidase). Deficiency of this enzyme causes the death of brain cells, a process that underlies the symptoms seen in Krabbe. Alternative Names Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency Causes 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 myelinated neurons. 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

40. Krabbe Disease And Leukodystrophies krabbe disease AND LEUKODYSTROPHIES HUNTER’S HOPE FOUNDATION. Hunter’s HopeFoundation supports research directly related to krabbe disease and other http://vpr2.admin.arizona.edu/rso/02020107.htm

Postdoctoral Fellowships - for investigators who are within 5 years of having received their doctoral degrees. Awards are $40,000 to $60,000 per year for 2 years. Pilot Studies - for the testing of new concepts or ideas. Awards are up to $30,000. Major Research Grants - for senior investigators conducting major research studies. Awards are up to $100,000 per year for 1 to 3 years. Contact: suzanne@huntershope.org Web: http://www.huntershope.org/ Deadline: 15 April, 15 September 2002. RSO Reference No.:

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