41. Rural Nurse Organization Clinic Digital Library metachromatic leukodystrophy (Low Power) Access document metachromatic leukodystrophy (Keyword search) List of documents; Metabolism, Inborn Errors http://ruralnurseorganization-dl.slis.ua.edu/clinical/metabolism/inborn/lysosoma

Clinical Resources by Topic: Metabolic Disorders Metachromatic Leukodystrophy Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Metachromatic Leukodystrophy Patient/Family Resources Neurology (eMedicine): Table of contents Ataxia with Identified Genetic and Biochemical Defects: Access document Pediatrics Resources See also General Pediatrics Resources Pediatrics (eMedicine): Table of contents Metachromatic Leukodystrophy: Access document Lipid Storage Disorders: Access document Radiology Resources See also General Radiology Resources CHORUS-Collaborative Hypertext of Radiology: Homepage Musculoskeletal System: List of documents Metachromatic Leukodystrophy: Access document Pathology Resources eAtlas of Pathology (Univ of Connecticut): Table of contents Diseases of Brain: List of documents Metachromatic Leukodystrophy (Low Power): Access document Metachromatic Leukodystrophy (Low Power): Access document Metachromatic Leukodystrophy (High Power): Access document Genetics Resources See also General Genetics Resources Online Mendelian Inheritance in Man: Homepage Metachromatic Leukodystrophy: Access document Metachromatic Leukodystrophy, Adult Onset:

42. Dysmyelination metachromatic leukodystrophy (MLD) Myelinating Schwann cells with particulate clear debris in their cytoplasm(left). Axons with thin myelin http://www.neuro.wustl.edu/neuromuscular/pathol/nervedysmy.htm

DYSMYELINATION Metachromatic Leukodystrophy (MLD) Metachromatic Leukodystrophy (MLD) Myelinating Schwann cells with in their cytoplasm(left). Axons with thin myelin bulbs (right). Krabbe disease: Globoid cells Return to Normal nerve biosies Return to Biopsy illustrations Return to Neuromuscular Home Page Return to Nerve biopsy Return to Demyelinating neuropathies

43. Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth metachromatic leukodystrophy l Arylsulfatase A ; Chromosome 22q13.31; Recessive. Clinical features. CNS Mental retardation; Optic Atrophy; Spasticity http://www.neuro.wustl.edu/neuromuscular/time/hmsn.html

Front Index Search Links ... Patient Information HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT) Dominant CMT 1A : PMP-22; 17p11 CMT 1B : P protein; 1q22 CMT 1C : LITAF; 16p13 CMT 1D CMT 1E : P protein; 1q22 CMT 1F : Neurofilament light chain; 8p21 HNPP : PMP-22 deletion; 17p11 HMSN 3 (Dejerine-Sottas) PMP-22; P Thermosensitive Sensory PN + hearing loss : Connexin-31; 1p35 Hypomyelin, No symptoms Recessive CMT 4A : GDA P1; 8q21.1 CMT 4B CMT 4B2 CMT 4C CMT 4D (Lom) ... CMT 4F : Periaxin; 19q13 HMSN-Russe CMT 4H HMSN 3 (Dejerine-Sottas) P PMP-22 Periaxin HMSN + Juvenile glaucoma ... Congenital hypomyelinating P Farber's lipogranulomatosis : Ceramidase; 8p22 Glycosylation deficient, Ia Krabbe : GALC; 14q31 MLD : ARSA; 22q13 PMP-22 point mutations Refsum's disease Childhood : PHYH; 10pter-p11.2 Adolescent-Adult Infant HMSN + CNS : Heterogeneous X-linked Connexin-32 Pyramidal signs Axonal Dominant CMT 2A1 CMT 2A2 CMT 2B CMT 2C ... CMT 2D : GARS; 7p14 CMT 2E : Neurofilament light chain; 8p21 CMT 2F CMT 2G CMT 2I : P CMT 2J : P CMT 2L HMSN-Proximal HMSN 5 : Pyramidal signs HMSN + Optic atrophy HMSN + Deafness HMSN 6 P ... AR-CMT2A : Lamin A/C; 1q21

44. Metachromatic Leukodystrophy - HUM-MOLGEN Author, Topic metachromatic leukodystrophy. Natalia Olkhovich unregistered, posted 0317-2002 1252 PM Edit/Delete Message Reply w/Quote http://hum-molgen.org/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.

45. Metachromatic Leukodystrophy, Late Infantile Form metachromatic brain leukodystrophy; metachromatic leukoencephalopathy; sulfatidosis; Greenfield disease; arylsulfatase A deficiency. ICD9-CM http://www.5mcc.com/Assets/SUMMARY/TP0585.html

Metachromatic leukodystrophy, late infantile form DESCRIPTION: A form of leukoencephalopathy transmitted autosomal recessive. Characteristics - accumulation of sphingolipid in neural and non-neural tissues with a diffuse loss of myelin in the central nervous system. The infantile form begins in the second year of life with blindness, motor disturbances, mental deterioration. Usual course - progressive. CAUSES: arylsulfatase A deficiency Synonyms: metachromatic brain leukodystrophy metachromatic leukoencephalopathy sulfatidosis Greenfield disease arylsulfatase A deficiency ICD-9-CM: 330.0 leukodystrophy Web references: United Leukodystrophy Foundation Author(s): Mark R. Dambro, MD

46. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Search results for metachromatic leukodystrophy ALLFIELDS are shown below. Include trials that are no longer recruiting patients. 1 study was found. http://www.clinicaltrials.gov/search/term=Metachromatic Leukodystrophy

Home Search Browse Resources ... About Search results for Metachromatic Leukodystrophy [ALL-FIELDS] are shown below. Include trials that are no longer recruiting patients. 1 study was found. 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 U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Privacy ... Freedom of Information Act

47. Metachromatic Leukodystrophy The Essentials on metachromatic leukodystrophy Guidelines. Overview. What Is metachromatic leukodystrophy? Is There Any Treatment? What Is the Prognosis? http://www.icongrouponline.com/health/Metachromatic_Leukodystrophy.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: The Official Parent's Sourcebook on METACHROMATIC LEUKODYSTROPHY (Arylsulfatase A Deficiency; Cerebroside Sulfatase Deficiency; Diffuse Cerebral Sclerosis; Greenfield disease; Late-Onset Metachromatic Leukodystrophy; metachromatic brain leukodystrophy; Metachromatic Form of Diffuse Cerebral; metachromatic leukoencephalopathy; Sulfatide Lipidosis; sulfatidosis) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Metachromatic Leukodystrophy. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Arylsulfatase A Deficiency; Cerebroside Sulfatase Deficiency; Diffuse Cerebral Sclerosis; Greenfield disease; Late-Onset Metachromatic Leukodystrophy; metachromatic brain leukodystrophy; Metachromatic Form of Diffuse Cerebral; metachromatic leukoencephalopathy; Sulfatide Lipidosis; sulfatidosis Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Metachromatic Leukodystrophy: Guidelines

48. Dr. Koop - Metachromatic Leukodystrophy metachromatic leukodystrophy, Jul 29, 2005 recommended for parents with a family history of metachromatic leukodystrophy who are planning a pregnancy. http://www.drkoop.com/ency/93/001205prv.html

Home Health Reference Metachromatic leukodystrophy Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Metachromatic leukodystrophy Injury Disease Nutrition Poison ... Prevention Metachromatic leukodystrophy Alternative Names: MLD; Arylsulfatase A deficiency Prevention: Genetic counseling is recommended for parents with a family history of metachromatic leukodystrophy who are planning a pregnancy. New Features Fewer Migraines Skin Cancer Atkins/Low Carb Diets Learn More About Migraines * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks Disabled/Special Needs Drug Abuse Ear/Nose/Throat Eating/Appetite Eczema Encephalitis Eye/Vision Fatigue Fever Flu Food Poisoning Foot Gallbladder Gastrointestinal Genetic/Congenital GERD/Heartburn Hair Loss Hair/Scalp Headache Hearing Heart Disease, Stroke

49. UniProt Knowledgebase Keyword: Metachromatic Leukodystrophy Protein which, if defective, causes metachromatic leukodystrophy, a disease characterized by intralysosomal or myelin membrane storage of http://www.expasy.org/cgi-bin/get-entries?KW=Metachromatic leukodystrophy

50. Metachromatic Leukodystrophy - Blood And Marrow Transplantation, Medical School, Metachromatic Leukiodystromphy and BMT Blood and Marrow Transplantation, Medical School, at the University of Minnesota. http://www.bmt.umn.edu/BMT/disease/Metabolic/MLD.html

Return to: Medical School Academic Health Center myAHC U of M Home ... BMT Home Fairview-University BMT Program MMC 803 420 Delaware St SE Minneapolis, MN 55455 888.601.0787 (toll-free) bmt@umn.edu Home Diseases Inherited Metabolic Storage Diseases and BMT > Metachromatic Leukodystrophy Metachromatic Leukodystrophy Metachromatic Leukodystrophy (MLD) MLD can manifest itself at three distinct stages in life. Type I, Late Infantile, appears between six months to two years of age. The child will develop normally until the onset of the disease, at which point parents will first begin to notice low muscle town. She/he will be slow in learning to walk, or begin to stagger and fall frequently. Eventually, the child will lose any abilities she/he had once acquired, including: speaking, moving, and swallowing. Eventually the child will need to be tube fed, and death usually occurs three to five years after onset. Because MLD is genetic, it is difficult to cure. Current approaches to MLD include genetic counseling for parents who are carriers of the disease, and improvements in early detection of the disease in unborn children. For MLD patients, a variety of treatments have been tried. The goal of treatment is to get the missing enzyme into the body. Unfortunately, directly injecting ASA into the bloodstream has proven unsuccessful, since the enzyme cannot make it from there to the brain. Injecting ASA directly into the brain has not worked either, because not enough of the enzyme is absorbed.

51. Metachromatic Leukodystrophy metachromatic leukodystrophy Diffusion MR Imaging Findings metachromatic leukodystrophy (demyelinating neuropathy caused by the absence of http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=199

52. Disease - Metachromatic Leukodystrophy - Hartford, Connecticut Disease metachromatic leukodystrophy - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations http://www.saintfranciscare.com/12889.cfm

@import url(main.css); About Us Health Information Health Focus Todays Breast Health News ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Metachromatic leukodystrophy Definition: Metachromatic leukodystrophy is an inherited disease characterized by the absence of the enzyme arylsulfatase A, which causes a material called cerebroside sulfate to accumulate in cells. This is toxic to the cell, especially neurons (the cells of the nervous system) and causes the problems of the disease. MLD is a member of a class of diseases called lysosomal storage disorders. In these diseases, patients lack a protein needed to metabolize the food we eat. Alternative Names: MLD; Arylsulfatase A deficiency Causes And Risk: Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait, which means that a person must inherit the defective gene from both parents to be affected. MLD has a wide range of symptoms. As with many other storage diseases, there are forms of early and delayed onset (late infant, juvenile, and adult types). The most common and most severe form is the late infant onset form, which has symptoms such as

53. Metachromatic Leukodystrophy a CHORUS notecard document about metachromatic leukodystrophy. http://chorus.rad.mcw.edu/doc/00263.html

CHORUS Collaborative Hypertext of Radiology Nervous system About CHORUS Search Feedback metachromatic leukodystrophy dysmyelinating disease autosomal recessive aryl sulfatase A absent from urine and serum most present by 2 yrs, die at 3-4 yrs may arise at any age CT: decreased density of white matter, primarily in centrum semiovale focal GB defects Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 26 May 2004 Related CHORUS documents: dysmyelinating disease leukodystrophy adrenoleukodystrophy Cockayne syndrome ... spongy degeneration (Canavan disease) Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

54. Metachromatic Leukodystrophy metachromatic leukodystrophy. dysmyelinating disease. autosomal recessive; aryl sulfatase A absent from urine and serum; most present by 2 yrs, http://chorus.rad.mcw.edu/to-go/00263.html

metachromatic leukodystrophy dysmyelinating disease autosomal recessive aryl sulfatase A absent from urine and serum most present by 2 yrs, die at 3-4 yrs may arise at any age CT: decreased density of white matter, primarily in centrum semiovale focal GB defects Home Nervous system

55. Correction Of Metachromatic Leukodystrophy In The Mouse Model By Transplantation Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells http://www.jci.org/cgi/content/abstract/113/8/1118

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Biffi, A. Articles by Naldini, L. Related Collections Related Article J. Clin. Invest. :1118-1129 (2004). doi:10.1172/JCI200419205. Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells Alessandra Biffi Michele De Palma Angelo Quattrini Ubaldo Del Carro Stefano Amadio Ilaria Visigalli Maria Sessa Stefania Fasano Riccardo Brambilla Sergio Marchesini Claudio Bordignon and Luigi Naldini San Raffaele Telethon Institute for Gene Therapy; Neurology Department; Department of Molecular Biology and Functional Genomics, San Raffaele Scientific Institute, Milan, Italy. Department of Biomedical Science and Biotechnology, University of Brescia, Brescia, Italy.

56. Correction Of Metachromatic Leukodystrophy In The Mouse Model By Transplantation metachromatic leukodystrophy (MLD) is a storage disorder that is due to inherited metachromatic leukodystrophy and multiple sulfatase deficiency http://www.jci.org/cgi/content/full/113/8/1118

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Biffi, A. Articles by Naldini, L. Related Collections Related Article J. Clin. Invest. :1118-1129 (2004). doi:10.1172/JCI200419205. Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells Alessandra Biffi Michele De Palma Angelo Quattrini Ubaldo Del Carro Stefano Amadio Ilaria Visigalli Maria Sessa Stefania Fasano Riccardo Brambilla Sergio Marchesini Claudio Bordignon and Luigi Naldini San Raffaele Telethon Institute for Gene Therapy; Neurology Department; Department of Molecular Biology and Functional Genomics, San Raffaele Scientific Institute, Milan, Italy. Department of Biomedical Science and Biotechnology, University of Brescia, Brescia, Italy. Vita Salute San Raffaele University, Milan Italy.

57. BBC - H2g2 - Metachromatic Leukodystrophy - A Genetic Disease h2g2 is the unconventional guide to life, the universe and everything, a guide that s written by visitors to the website, creating an organic and evolving http://www.bbc.co.uk/dna/h2g2/A1325189

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index Friday 9th September 2005 Text only Guide ID: A1325189 (Edited) Edited Guide Entry SEARCH h2g2 Advanced Search New visitors: Returning members: BBC Homepage The Guide to Life The Universe and Everything 1. Life Created: 29th December 2003 Metachromatic Leukodystrophy - A Genetic Disease Front Page What is h2g2? Who's Online Write an Entry ... Help Like this page? Send it to a friend! Metachromatic Leukodystrophy (MLD) is a genetic disease where the lysosomes of the cell don't store materials correctly, resulting in an abnormal accumulation of lipids , which causes progressive deterioration of motor control and neurological functioning. To further classify MLD, it is both autosomal and recessive Cause and Effect The cause of MLD is well known: The gene that tells the body how to make an important enzyme, arylsulphatase A (ASA), is defective in some manner. ASA is the enzyme that is responsible for the breakdown of sulphatides . ASA is normally stored in the lysosome inside the cell, which is why MLD is a lysosomal disease. The process by which ASA breaks down sulphatides is called hydrolysis . During hydrolysis, cerebroside sulphatide is normally transformed to form a chemical known as galactocerebroside (GalC)

58. Metachromatic Leukodystrophy - Definition Of Metachromatic Leukodystrophy In The Definition of metachromatic leukodystrophy in the Medical Dictionary and Thesaurus. metachromatic leukodystrophy explanation. http://medical-dictionary.thefreedictionary.com/metachromatic leukodystrophy

Domain='thefreedictionary.com' word='metachromatic leukodystrophy' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia metachromatic leukodystrophy Also found in: Acronyms 0.03 sec. Page tools Printer friendly Cite / link Email Feedback metachromatic leukodystrophy n. An inherited metabolic disorder characterized by myelin loss, accumulation of metachromatic lipids in the white matter of the central and peripheral nervous systems, a marked excess of sulfatidates in white matter and in urine, progressive paralysis, and dementia. Mentioned in No references found Medical browser Full browser metacarpus metacentric metacentric chromosome metacercaria ... metachromatic body metachromatic leukodystrophy metachromatic stain metachromatism metachromophil metagenesis ... metachromatic body metachromatic leukodystrophy metachromatic stain metachromatism metachromatism metachromophil ... Metacomet Word (phrase): Word Starts with Ends with Definition Free Tools: For surfers: Browser extension Word of the Day NEW!

59. Metachromatic Leukodystrophy At present, there is no treatment for metachromatic leukodystrophy itself. metachromatic leukodystrophy is a severely debilitating progressive disease http://adam.about.com/encyclopedia/001205trt.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zCMt='a00' About Healthcare Center Healthcare Center Essentials ... Surgeries and Procedures zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Allergies Arthritis Asthma Breast Cancer ... 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); Search Healthcare Center ENCYCLOPEDIA INDEX Injury Disease Nutrition Poison ... Z Metachromatic leukodystrophy Overview Symptoms Treatment Prevention Alternative Names: MLD; Arylsulfatase A deficiency Treatment: At present, there is no treatment for metachromatic leukodystrophy itself. Symptomatic treatments may provide mild relief. Bone marrow tranplants have been performed in a small number of patients. Support Groups: The United Leukodystrophy Association can be reached at www.ulf.org or call 800-728-5483. Expectations (prognosis): Metachromatic leukodystrophy is a severely debilitating progressive disease whose outcome is fatal. Complications: bronchopneumonia seizures Calling your health care provider: Call your health care provider if you have a family history of this disease or if you notice symptoms suggestive of this disorder.

60. Metachromatic Leukodystrophy Prevention. Genetic counseling is recommended for parents with a family history of metachromatic leukodystrophy who are planning a pregnancy. http://adam.about.com/encyclopedia/001205prv.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zCMt='a00' About Healthcare Center Healthcare Center Essentials ... Surgeries and Procedures zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Allergies Arthritis Asthma Breast Cancer ... 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); Search Healthcare Center ENCYCLOPEDIA INDEX Injury Disease Nutrition Poison ... Z Metachromatic leukodystrophy Overview Symptoms Treatment Prevention Alternative Names: MLD; Arylsulfatase A deficiency Prevention: Genetic counseling is recommended for parents with a family history of metachromatic leukodystrophy who are planning a pregnancy. zau(256,420,100,'ri','http://z.about.com/5/o/c.htm?gs='+gs,'') Most Popular Video Bathroom Decoration Ideas Tag Sale Tips Creating a Craft Room Making a Personal Space ... New York Times Company Hurricane Katrina About's Hurricane Blogs NY Times Coverage Where to Donate Exclusive: One Family's Story ... How to Explain to Kids

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