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

61. 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

62. 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
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Health Concerns Metachromatic Leukodystrophy Information Page
Table of Contents (click to jump to sections)
What is Metachromatic Leukodystrophy?
Is there any treatment?

What is the prognosis?

What is Metachromatic Leukodystrophy?
Is there any treatment?

There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some cases. Other treatment is symptomatic and supportive. What is the prognosis? The prognosis for MLD is poor. Death generally occurs within 6 to 14 years after onset of symptoms. In the infantile form death may occur between 3 and 6 years after onset. Return to top Health Concerns Connection A B ... Z Hosted By Richardson Graphics Web Design Printing and Hosting

63. 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
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Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy, late infantile form
OVERVIEW:
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:
TREATMENT
MISCELLANEOUS
SYNONYMS:
ICD-9-CM:
330.0 leukodystrophy
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64. 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

65. 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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66. 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
Wednesday, June 02, 2004 Neurological Disorders Demyelinating Diseases
Guillain-Barre Syndrome

Leukodystrophy
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67. 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
HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 324:18-22 January 3, 1991 Number 1 Next Molecular basis of different forms of metachromatic leukodystrophy
A Polten, AL Fluharty, CB Fluharty, J Kappler, K von Figura, and V Gieselmann
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Source Information Department of Biochemistry II, Georg-August-Universitat Gottingen, Germany.
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.

68. 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
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ajc store Gifts Photos/pages Browser tip  Make ajc.com  your homepage: ajc guides Schools Visitors Illustrated Health Encyclopedia Important notice 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

69. 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
ARSA
Nucleotide substitutions (missense / nonsense)
Accession
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

70. 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

71. 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

72. 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

73. 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

74. [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
Date Prev Date Next [Chronological] [Thread] ... [Top]
[DYSPHAGIA] Metachromatic Leukodystrophy

75. PillSupplier.com - Conditions And Diseases/Neurological Disorders/Demyelinating
Category metachromatic leukodystrophy. Conditions and Diseases/Neurological Disorders/Demyelinating Diseases/Leukodystrophy/metachromatic leukodystrophy. Links
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76. 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

77. 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

78. 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

79. 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
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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.

80. 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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