81. Leukodystrophy,Refsum's Disease,Cerebrotendinous Xanthomatosis,Metachromatic Leu leukodystrophy,Refsum s Disease,Cerebrotendinous Xanthomatosis,Metachromatic leukodystrophy,Globoid leukodystrophy,Krabbe s Disease Included,Krabbe s http://www.icomm.ca/geneinfo/leuk.htm

Leukodystrophy,Refsum's Disease,Cerebrotendinous Xanthomatosis,Metachromatic Leukodystrophy,Globoid Leukodystrophy,Krabbe's Disease Included,Krabbe's Leukodystrophy,Adrenoleukodystrophy,Sudanophilic Leukodystrophy Included,Schilder's Disease,Pelizaeus-Merzbacher Brain Sclerosis,Alexanders Disease,Canavan's Disease Included,Canavan's Leukodystrophy For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Leukodystrophy Disorder Subdivisions Canavan's Leukodystrophy (Canavan's Disease, Included) Krabbe's Leukodystrophy (Krabbe's Disease, Included) Metachromic Leukodystrophy Refsum's Disease Adrenoleukodystrophy Cerebrotendinous Xanthomatosis Sudanophilic Leukodystrophy, Included Globoid Leukodystrophy Schilder's Disease Pelizaeus-Merzbacher Brain Sclerosis Alexanders Disease (as defined by the National Organization for Rare Disorders Leukodystrophy is the name given to a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each of the leukodystrophies will affect one of the chemicals that make up the myelin sheath or white matter of the brain, causing the various types of leukodystrophy.

82. Startplane /Health/Conditions_and_Diseases/Neurological_Disorders/Demyelinating_ leukodystrophy. Subcategories. Links. Aicardi-Goutieres Syndrome - News, descriptions, contacts, and other information concerning this leukodystrophy. http://www.startplane.com/Health/Conditions_and_Diseases/Neurological_Disorders/

Start Plane About Us Free Webpages Top Health ... Leukodystrophy Leukodystrophy Top Leukodystrophy Sites Your Site Here! - Get your site listed on StartPlane! The #1 performance based directory online! Sub-categories Adrenoleukodystrophy Canavan Krabbe Disease Metachromatic Leukodystrophy See also: Top/Health/Conditions and Diseases/A Top/Health/Conditions and Diseases/C Top/Health/Conditions and Diseases/L Top/Health/Conditions and Diseases/M Links Aicardi-Goutieres Syndrome - News, descriptions, contacts, and other information concerning this leukodystrophy. Alexander Disease - Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. Call Again Soon - Directed at making life better for people affected by Leukodystrophy and those who know and love them. Devoted to Brianna - Medical experiences and terminology helpful for parents to understand and cope with genetic disorders. One little girl's story, concerning Canavan Leukodystrophy offers help and hope to many. Dylan Samuel Freeman - Dylan has a very rare neurological disorder, Alexanders disease (Leukodystrophy). His story, his progress, and photographs. Family Village / Library / Leukodystrophy - Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease.

83. 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

Globoid Cell Leukodystrophy GCL a.k.a. Krabbe's Disease 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. GCL has been seen in puppies as young as four weeks of age, and as late as five months. The disease progresses very rapidly, resulting in death usually within two to three months after the onset of the clinical signs of the disease. There is currently no treatment for GCL. 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.

84. Leukodystrophies, Leukoencephalopathies, And Other White Matter General Head. leukodystrophy and leukoencephalomyelopathy. Metachromatic leukodystrophy; Neonatal adrenoleukodystrophy; PelizaeusMerzbacher disease; http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNE2.htm

Leukodystrophies, Leukoencephalopathies, and Other White Matter Diseases NeuroLearn NeuroHelp General: Head Leukodystrophy and leukoencephalomyelopathy List of Differential Diagnosis: Head DIfferential diagnosis by pattern Individual Entities: Head Aicardi-Gouti res Syndrome (Leukodystrophy with calcification of the basal ganglia and lymphocytosis of cerebrospinal fluid) ... X-linked adrenoleukodystrophy (X-ALD)

85. Health, Conditions And Diseases, Neurological Disorders, Demyelinating Diseases: AicardiGoutieres Syndrome - News, descriptions, contacts, and other information concerning this leukodystrophy. Alexander Disease http://www.combose.com/Health/Conditions_and_Diseases/Neurological_Disorders/Dem

Top Health Conditions and Diseases Neurological Disorders ... Metachromatic Leukodystrophy Related links of interest: Health:Mental Health:Disorders:Child and Adolescent:Mental Retardation:Causes Health:Conditions and Diseases:Genetic Disorders Aicardi-Goutieres Syndrome - News, descriptions, contacts, and other information concerning this leukodystrophy. Alexander Disease - Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. Call Again Soon - Directed at making life better for people affected by Leukodystrophy and those who know and love them. Devoted to Brianna - Medical experiences and terminology helpful for parents to understand and cope with genetic disorders. One little girl's story, concerning Canavan Leukodystrophy offers help and hope to many. Dylan Samuel Freeman - Dylan has a very rare neurological disorder, Alexanders disease (Leukodystrophy). His story, his progress, and photographs. Family Village / Library / Leukodystrophy - Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease. Leukodystrophy Hub - A brief definition followed by links to research articles, overviews and case reports.

86. :: Ez2Find :: Leukodystrophy Guide leukodystrophy, Global Metasearch Any Language Guides, leukodystrophy. ez2Find Home Directory Health http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Leukodystrophy Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Leukodystrophy ez2Find Home Directory Health Conditions and Diseases ... Demyelinating Diseases : Leukodystrophy Adrenoleukodystrophy Canavan Krabbe Disease Metachromatic Leukodystrophy Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Mental Health: Disorders: Child and Adolescent: Mental Retardation: Causes Web Sites Aicardi-Goutieres Syndrome [Site Info] [Translate] [Open New Window] News, descriptions, contacts, and other information concerning this leukodystrophy. URL: http://www.aicardi-goutieres.com

87. VolunteerMatch - United Leukodystrophy Foundation VolunteerMatch. United leukodystrophy Foundation is located in Sycamore, Illinois. United leukodystrophy Foundation, Back . View Opportunities. Mission http://www.volunteermatch.org/orgs/org9649.html

June 2, 2004 United Leukodystrophy Foundation View Opportunities Mission Statement The United Leukodystrophy Foundation is dedicated to helping children and adults who have leukodystrophy or other white matter disorders and assisting the family members, professionals and support services that serve them. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service. Description The United Leukodystrophy Foundation is a non-profit, voluntary health organization incorporated in 1982. The Foundation works with families and researchers in over 40 countries to increase public awareness of the leukodystrophies; to promote and support research of the leukodystrophies; to provide leukodystrophy patients and families with information about the disease and to assist them in referrals for medical care, social services and genetic counseling and to coordinate a communication network among affected families; to coordinate cooperation between donor agencies, governmental agencies and scientific programs with the private sector. Opportunities There are currently no opportunities for this organization.

88. Database Search Results this database does not imply endorsement by the US Department of Health and Human Services.. Searched keywords for leukodystrophy. http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Leukodystrophy

89. 1725: Leukodystrophy And Oculocutaneous Albinism In A Child With A 11q14 Deletio Program Nr 1725 leukodystrophy and oculocutaneous albinism in a child with a 11q14 deletion identified by FISH. D. Lacombe 1 , C http://www.faseb.org/genetics/ashg99/f1725.htm

Program Nr: 1725 Leukodystrophy and oculocutaneous albinism in a child with a 11q14 deletion identified by FISH. D. Lacombe , C. Goizet , I. Coupry , P. Verin , B. Mortemousque , L. Taine , B. Arveiler 1) Department of Medical Genetics, Pellegrin University Hospital, Bordeaux Cedex, France; 2) Ophtalmology Department, CHU Bordeaux, France. We report a de novo chromosomal microdeletion identified by fluorescence in situ hybridization (FISH) in a patient with an unspecified leukodystrophy associated with oculocutaneous albinism (OCA). The patient is the third son of non-consanguineous French parents with unremarkable family history. OCA was noted at birth with total depigmentation of skin, hair and iris associated with nystagmus. Walking and speech were delayed. The visual deficit was evident in early childhood. At the age of 15, generalised epileptic episodes occured with slow activity and paroxysms on EEG. Brain MRI showed white matter lesions typical of leukodystrophy. At age 18, mental retardation was moderate (IQ=51). Metabolic screening was normal. Tyrosinase (TYR) activity was negative in hair roots, leading to classify OCA as tyrosinase-negative. Karyotype on lymphocytes was normal. A FISH study using a TYR gene probe revealed a heterozygous microdeletion of chromosome 11q14. FISH of both parents was normal confirming the

90. Leukodystrophy leukodystrophy leukodystrophy, Globoid Cell Medline NLM definition An inherited metabolic disorder of the nervous system, particularly the white matter. http://www.ion.ucl.ac.uk/library/patient/leuko.htm

Leukodystrophy Leukodystrophy, Globoid Cell Medline NLM definition : An inherited metabolic disorder of the nervous system, particularly the white matter. It is characterized histologically by a paucity of myelin and oligodendroglia, severe astrocytic gliosis, and massive infiltration with unique multinucleated globoid cells which are enriched in galactosylceramide. The primary genetic defect is a deficiency of GALACTOSYLCERAMIDASE. Leukodystrophy, metachromatic Medline NLM definition : A sphingolipidosis where there is defective desulfation of galactosyl-3-sulfate ceramide due to a defective enzyme cerebroside sulfatase (arylsulfatase A). The result is an accumulation of sulfatide in neural and non-neural tissues which manifests as mental deterioration and severe disturbances of the central nervous system. PubMed Medline search on Leukodystrophy Leukodystrophy factsheet: National Institute for Neurological Disorders and Stroke Support Groups Climb The Quadrangle, Crewe Hall, Weston Road, Crewe, Cheshire CW1 6UR Tel: 01270 250221 (information, advice and support to parents and professionals involved with metabolic diseases). The office is open 9.00am - 5.00pm Mondays to Fridays.

91. Alexa Web Search - Subjects > Health > ... > Neurological Disorders > Demyelinat Best Selling Products in leukodystrophy. See more products Search in leukodystrophy Sponsored Listings in leukodystrophy (what s this?). http://www.alexa.com/browse/categories?catid=901655

92. Metachromatic Leukodystrophy - HUM-MOLGEN Author, Topic metachromatic leukodystrophy. Natalia Olkhovich unregistered, posted 0317-2002 1252 PM Edit/Delete Message Reply w/Quote http://www.hum-molgen.de/bb/Forum2/HTML/000101.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) metachromatic leukodystrophy profile register preferences faq ... next oldest topic Author Topic: metachromatic leukodystrophy Natalia Olkhovich unregistered posted 03-17-2002 12:52 PM Is there anyone interested on mutation detection on MLD patients originating from the Ukraine with variable phenotypic expression? IP: 195.64.227.130 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications Open Topic Forum List of Archives: Genetic News DIAGnostics - Clinical Research Contact Us HUM-MOLGEN HUM-MOLGEN Powered by: Ultimate Bulletin Board, Version 5.44a By posting requests at HUM-MOLGEN you reach more than 9.500 mailing list subscribers and a 6 digit number of www users. Therefore post high quality messages only, including full name and institutional address.

93. KRABBE - GLOBOID LEUKODYSTROPHY Features Listed For KRABBE GLOBOID leukodystrophy. McKusick 245200. Intra-cranial calcification; Microcephaly; Nystagmus; Optic atrophy. Chromosome(s) 14;q;24-32. http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?953

94. Metachromatic Leukodystrophy And Nonverbal Learning Disability: Neuropsychologic research article. Metachromatic leukodystrophy and Nonverbal Learning Disability Neuropsychological and Neuroradiological Findings in Heterozygous Carriers. http://www.szp.swets.nl/szp/journals/cn071054.htm

Child Neuropsychology 2001, Vol.7, No.1, pp. 54-58 research article Metachromatic Leukodystrophy and Nonverbal Learning Disability: Neuropsychological and Neuroradiological Findings in Heterozygous Carriers Anna M. Weber Byars , McKellop J. Mark , Gyato Kunsang , Sullivan Tom and N. David University of Cincinnati, Children's Hospital Medical Center, Cincinnati, USA

95. Short Description Of Cell Lines. Pathology: Metachromatic Leukodystrophy, Late-i Version 4.200205, Short description of cell lines. Pathology metachromatic leukodystrophy, lateinfantile *250100 OMIM record. - By http://www.biotech.ist.unige.it/cldb/pat131.html

Version Short description of cell lines. Pathology: metachromatic leukodystrophy, late-infantile 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...

96. Short Description Of Cell Lines. Pathology: Metachromatic Leukodystrophy #249900 Version 4.200205, Short description of cell lines. Pathology metachromatic leukodystrophy 249900 OMIM record. By selecting the http://www.biotech.ist.unige.it/cldb/pat214.html

Version Short description of cell lines. Pathology: metachromatic leukodystrophy 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 skin, fibroblast GEIMM IMG-1112 ... By Beatrice...

97. Blackwell Synergy - Cookie Absent Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy. RN Sener. A spectrum from the patient with metachromatic leukodystrophy (Fig. http://www.blackwell-synergy.com/links/doi/10.1034/j.1600-0455.2003.00094.x/abs/

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

98. Blackwell Synergy - Cookie Absent Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy. RN Sener. MRI appearances of metachromatic leukodystrophy. Pediatr. Radiol. http://www.blackwell-synergy.com/links/doi/10.1034/j.1600-0455.2003.00094.x/enha

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

99. Metachromatic Leukodystrophy Of The Brain Metachromatic leukodystrophy of the Brain From the Virtual Pathology Museum, Department of Pathology, University of Connecticut Health Center. http://radiology.uchc.edu/Code/1624.htm

Metachromatic Leukodystrophy, Brain Metachromatic Leukodystrophy (low power) •Very low power view of white matter in metachromatic leukodystrophy showing many macrophages and granular collections of storage material as well as pallor of myelin. •Metachromatic leukodystrophy is an inherited disease disease of myelin due to lack of Arylsulphatase which causes an abnormal myelin to form which breaks down early. Image Contrib. by:Margaret Grunnet, M.D. UCHC Description by: Margaret Grunnet, M.D. ( 1723-5528) More Information

100. Leukodystrophy - Glossary Entry - Genetics Home Reference leukodystrophy Glossary Entry. Definition(s). Defect in the formation and maintenance of myelin in infants and children. Definition http://ghr.nlm.nih.gov/ghr/glossary/leukodystrophy

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Glossary Glossary Home Search Genetics Home Reference Help Me Understand Genetics Leukodystrophy - Glossary Entry Definition(s) Defect in the formation and maintenance of myelin in infants and children. Definition from: Unified Medical Language System (CRISP Thesaurus) at the National Library of Medicine Genetics Home Reference obtains definitions from several sources Published: May 28, 2004 This is a page from Genetics Home Reference Contact Us Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine ... Accessibility

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