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Metachromatic Leukodystrophy: more detail

The Official Parent's Sourcebook on Metachromatic Leukodystrophy: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09-11
Leukodystrophies: Adrenoleukodystrophy, Canavan Disease, Pelizaeus-Merzbacher Disease, Metachromatic Leukodystrophy, Krabbe Disease
Metachromatic leukodystrophy: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Igor, MD, PhD Medica, 2005

lists with details

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
Metachromatic Leukodystrophy Medical Wisdom Information
metachromatic leukodystrophy Information Page. Table of Contents (click to jump to sections). What is metachromatic leukodystrophy? Is there any treatment?
http://medicalwisdom.com/health/disorders/meta_leu_doc.htm
Metachromatic Leukodystrophy, Late Infantile Form » Medical Diagnosis
Medical Diagnosis » M » metachromatic leukodystrophy, late infantile form. metachromatic leukodystrophy, late infantile form. Metachromatic
http://www.medfamily.org/diagnosis/M/diagnosis-terms-Metachromatic_leukodystroph

Extractions: Z Metachromatic leukodystrophy, late infantile form 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. 330.0 leukodystrophy
Australian Leukodystrophy Support Group Inc
Back to Main List metachromatic leukodystrophy. metachromatic leukodystrophy is unusual among the leukodystrophies because, rather
http://home.vicnet.net.au/~leuko/meta.html
HealthCentral - Pediatrics Encyclopedia - Metachromatic Leukodystrophy
metachromatic leukodystrophy. Causes, incidence, and risk factors metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait.
http://www.healthcentral.com/peds/top/001205.cfm

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Disease Directory : Neurological Disorders : Demyelinating Diseases : Leukodystr
AllRefer Health metachromatic leukodystrophy (Arylsulfatase A - metachromatic leukodystrophy (Arylsulfatase A Deficiency, MLD) information center covers
http://www.diseasedirectory.net/Neurological_Disorders/Demyelinating_Diseases/Le

Extractions: Leukodystrophy ... Demyelinating Diseases : Leukodystrophy Adrenoleukodystrophy Krabbe Disease Canavan Metachromatic Leukodystrophy ... 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. AllRefer Health - Metachromatic Leukodystrophy (Arylsulfatase A ... - Metachromatic Leukodystrophy (Arylsulfatase A Deficiency, MLD) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk - What is Leukodystrophy? Answer: Leukodystrophy, also referred to How does Leukodystrophy occur? Answer: Generally speaking, in Leukodystrophy Call Again Soon - Directed at making life better for people affected by Leukodystrophy and those who know and love them. Campath 1-h for MS - Provides details of personal experience of Campath 1-h as a treatment for multiple sclerosis. chemical leukodystrophy - chemical leukodystrophy. This article submitted by Cindy Daubenmire on 9/12/95. Does anybody know what chemical leukodystrophy is?
NEJM -- Molecular Basis Of Different Forms Of Metachromatic Leukodystrophy
Original Article from The New England Journal of Medicine Molecular basis of different forms of metachromatic leukodystrophy.
http://content.nejm.org/cgi/content/short/324/1/18

Extractions: This article has been cited by other articles: von Bulow, R., Schmidt, B., Dierks, T., Schwabauer, N., Schilling, K., Weber, E., Uson, I., von Figura, K. (2002). Defective Oligomerization of Arylsulfatase A as a Cause of Its Instability in Lysosomes and Metachromatic Leukodystrophy. J. Biol. Chem. [Abstract] [Full Text] Coulter-Mackie, M B, Rip, J, Beis, M J, Ferreira, P, Ludman, M D (2001). Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism. J. Med. Genet. [Full Text] Ofir, R., Wong, A. C. C., McDermid, H. E., Skorecki, K. L., Selig, S. (1999). Position effect of human telomeric repeats on replication timing. Proc. Natl. Acad. Sci. U. S. A.
Welcome To AJC!
metachromatic leukodystrophy. Overview Symptoms Treatment Prevention. metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait.
http://www.ajc.com/search/healthfd/shared/health/adam/ency/article/001205.html

Extractions: Subscribe ... Register Now It's Free! Log in E-mail preferences Site Index Search: Site Yellow Pages Customer care ajc.com Nation/World Metro ... Personals ajc services Archives Advertise online Advertise in print Obituaries ... Sitemap Print edition Today This week A1 image E-mail News Sign up for our Ency. home Disease M Metachromatic leukodystrophy Overview Symptoms Treatment Prevention Alternative names: MLD; Arylsulfatase A deficiency Definition: Metachromatic leukodystrophy is an inherited metabolic storage disease characterized by the absence of the enzyme arylsulfatase A and increased storage of sulfatide. Causes and Risks Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait. 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 the most severe form) is the late infant onset form, which has symptoms such as irritability decreased muscle tone muscle wasting , the loss of the ability to walk. Debility is progressive with
ARSA
Reference. CM990171, 32, cGGCAGC, Gly-Ser, metachromatic leukodystrophy, 1. CM990172, 68, CTG-CCG, Leu-Pro, metachromatic leukodystrophy, 1.
http://archive.uwcm.ac.uk/uwcm/mg/ns/1/119007.html

Extractions: Number Codon Nucleotide Amino acid Phenotype Reference cGGC-AGC Gly-Ser Metachromatic leukodystrophy CTG-CCG Leu-Pro Metachromatic leukodystrophy CCG-CTG Pro-Leu Metachromatic leukodystrophy CGG-CAG Arg-Gln Metachromatic leukodystrophy tCGG-TGG Arg-Trp Metachromatic leukodystrophy GGC-GAC Gly-Asp Metachromatic leukodystrophy gCCC-GCC Pro-Ala Metachromatic leukodystrophy AGC-AAC Ser-Asn Metachromatic leukodystrophy TCC-TTC Ser-Phe Metachromatic leukodystrophy GGC-GAC Gly-Asp Metachromatic leukodystrophy GGC-GTC Gly-Val Metachromatic leukodystrophy aGGA-AGA Gly-Arg Metachromatic leukodystrophy cGGC-AGC Gly-Ser Metachromatic leukodystrophy CTG-CCG Leu-Pro Metachromatic leukodystrophy CCC-CTC Pro-Leu Metachromatic leukodystrophy gCCC-TCC Pro-Ser Metachromatic leukodystrophy tCGA-GGA Arg-Gly Metachromatic leukodystrophy CCG-CTG Pro-Leu Metachromatic leukodystrophy cGAC-TAC Asp-Tyr Metachromatic leukodystrophy CAGg-CAC Gln-His Metachromatic leukodystrophy GGC-GAC Gly-Asp Metachromatic leukodystrophy CCC-CGC Pro-Arg Metachromatic leukodystrophy CCT-CGT Pro-Arg Metachromatic leukodystrophy cGAC-AAC Asp-Asn Metachromatic leukodystrophy TGT-TAT Cys-Tyr Metachromatic leukodystrophy ATC-AGC Ile-Ser Metachromatic leukodystrophy CAGc-CAC Gln-His Metachromatic leukodystrophy gCCC-ACC Pro-Thr Metachromatic leukodystrophy TGGc-TGA Trp-Term Metachromatic leukodystrophy TAC-TGC Tyr-Cys Metachromatic leukodystrophy GCC-GTC Ala-Val Metachromatic leukodystrophy
ORPHANET - Rare Diseases - Orphan Drugs
Printing version, DISEASE metachromatic leukodystrophy, Synonym(s) Arylsulfatase A deficiency, ICD E75.2, metachromatic leukodystrophy
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=512
Metachromatic Leukodystrophy
First Previous Next Last Index Home Text. Slide 61 of 84.
http://www.peds.umn.edu/residents/3m/99-00/9-17-99/sld061.htm
In Vivo Gene Therapy Of Metachromatic Leukodystrophy By Lentiviral
doi10.1038/85454 March 2001 Volume 7 Number 3 pp 310 316 In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors correction of
http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v7/n3/abs/nm0301_310
In Vivo Gene Therapy Of Metachromatic Leukodystrophy By Lentiviral
gene therapy of metachromatic leukodystrophy by lentiviral vectors correction of neuropathology and protection against learning impairments in affected mice
http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v7/n3/full/nm0301_31
[DYSPHAGIA] Metachromatic Leukodystrophy
DYSPHAGIA metachromatic leukodystrophy. Subject DYSPHAGIA metachromatic leukodystrophy; From Kelly_Moore@shepherd.org (Kelly Moore);
http://list.dysphagia.com/dysphagia/2002-January/msg00163.html

Extractions: Date Prev Date Next [Chronological] [Thread] ... [Top] Subject [DYSPHAGIA] Metachromatic Leukodystrophy From Kelly_Moore@shepherd.org (Kelly Moore) Date: Fri, 18 Jan 2002 14:40:50 -0500 Follow-Ups [DYSPHAGIA] Metachromatic Leukodystrophy From: eripley@yahoo.com (Irene Campbell-Taylor) Prev by Date: [DYSPHAGIA] loud voice when sneezing Next by Date: [DYSPHAGIA] Metachromatic Leukodystrophy Index(es): Chronological Thread
PillSupplier.com - Conditions And Diseases/Neurological Disorders/Demyelinating
Category metachromatic leukodystrophy. Conditions and Diseases/Neurological Disorders/Demyelinating Diseases/Leukodystrophy/metachromatic leukodystrophy. Links
http://www.pillsupplier.com/dir/464/
Thehealthline.ca - Health Services, News, Careers And Events In London, Middlese
Click to verify. We subscribe to the HONcode principles. Verify here. metachromatic leukodystrophy. Monochromatic Leukodystrophy (MLD) is a rare brain disorder.
http://thehealthline.ca/list1.asp?pathid=618
Rush Medical Center Home Page
protein; MLD 514. TEST SYNONYM(S) metachromatic leukodystrophy. Click here to go back to the alphabetic listing. Lab Manual Index
http://www.rush.edu/webapps/rml/RMLTestEntryDtl.jsp?id=3428
Disabilityexchange.org - Taxonomy
metachromatic leukodystrophy. What is metachromatic leukodystrophy? metachromatic leukodystrophy (MLD) is a genetic disorder caused
http://www.disabilityexchange.org/taxonomy/index.php?fid=3&path=3_326
CJNS-Isolated Peripheral Neuropathy In Atypical Metachromatic Leukodystrophy: A
Translate this page Abstract. Close Window. Isolated Peripheral Neuropathy in Atypical metachromatic leukodystrophy A Recurrent Mutation Marion B. Coulter
http://www.cjns.org/29maytoc/isolated.html

Extractions: Isolated Peripheral Neuropathy in Atypical Metachromatic Leukodystrophy: A Recurrent Mutation Abstract: Background: Metachromatic leukodystrophy (MLD) is a genetic neurodegenerative disorder resulting from a deficiency of arylsulfatase A. Late onset forms are relatively rare. Central nervous system (CNS) involvement is characteristic at all ages. Methods: A patient in her late 40s with peripheral neuropathy was assessed by EEG, evoked potentials, CT and nerve conduction studies. Nerve and muscle biopsy samples were investigated by electron microscopy. Arylsulfatase A activity in leukocytes and excreted cerebroside sulfate were determined. The arylsulfatase A gene was investigated for mutations using polymerase chain reaction (PCR) and DNA sequencing. The identified mutation was expressed transiently in African green monkey kidney (COS) cells to determine the effect of the mutation on arylsulfatase A activity. Results: Central nervous system functions were normal. Nerve conduction velocities were decreased. Sural nerve biopsy showed inclusions typical of MLD. Arylsulfatase A was less than 5% of normal. A homozygous mutation thr286pro was identified in the arylsulfatase A gene and demonstrated to be deleterious through transient expression studies.
Resource Library Find Information On Metachromatic Leukodystrophy
Find information on metachromatic leukodystrophy at MerckSource. Learn more metachromatic leukodystrophy. Definition metachromatic leukodystrophy
http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

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