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metachromatic leukodystrophy - genetic disease affecting nerve sheaths or myelin
Definition for metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is the most common form of a family of genetic diseases known as the leukodystrophies, diseases which affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibres throughout the central and peripherial nervous systems .
some common symptoms
change in cognition
paralysis
vision problems
weakness
some related diagnoses
1 - 7 of
94
diagnoses
intracranial tumor
subdural hematoma
Factor V Leiden thrombophilia
Guillain-Barre Syndrome
transient ischemic attacks
intracranial arteriovenous malformations
complex partial seizures
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do i have 'metachromatic leukodystrophy'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'metachromatic leukodystrophy'
1 - 5 of
18
diagnostic tests
Molecular Genetic Studies
metachromatic leukodystrophy and Molecular Genetic Studies
arylsulfatase A cultured fibroblasts
metachromatic leukodystrophy and arylsulfatase A cultured fibroblasts
arylsulfatase A white blood cells
metachromatic leukodystrophy and arylsulfatase A white blood cells
Brain MRI
metachromatic leukodystrophy and Brain MRI
Cerebrospinal Fluid analysis
metachromatic leukodystrophy and Cerebrospinal Fluid analysis
Developmental testing
metachromatic leukodystrophy and Developmental testing
EEG - Electroencephalogram
metachromatic leukodystrophy and EEG - Electroencephalogram
Lumbar Puncture
metachromatic leukodystrophy and Lumbar Puncture
Neuropsychiatric evaluation
metachromatic leukodystrophy and Neuropsychiatric evaluation
Nerve conduction studies (NCS)
metachromatic leukodystrophy and Nerve conduction studies (NCS)
Amniocentesis
metachromatic leukodystrophy and Amniocentesis
Peripheral (sural) nerve biopsy
metachromatic leukodystrophy and Peripheral (sural) nerve biopsy
Radiolabeled sulfatide fibroblast loading
metachromatic leukodystrophy and Radiolabeled sulfatide fibroblast loading
Urine sulfatide
metachromatic leukodystrophy and Urine sulfatide
Comprehensive eye exam
metachromatic leukodystrophy and Comprehensive eye exam
Nerve biopsy
metachromatic leukodystrophy and Nerve biopsy
cultured skin fibroblasts for biochemical study
metachromatic leukodystrophy and cultured skin fibroblasts for biochemical study
direct enzymatic assay in fibroblasts
metachromatic leukodystrophy and direct enzymatic assay in fibroblasts
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therapeutic procedures for 'metachromatic leukodystrophy'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for metachromatic leukodystrophy:
therapeutic procedure search results for 'metachromatic leukodystrophy'
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6
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Gene therapy
metachromatic leukodystrophy and Gene therapy
Bone Marrow Transplant
metachromatic leukodystrophy and Bone Marrow Transplant
umbilical cord blood transplant
metachromatic leukodystrophy and umbilical cord blood transplant
Fetal therapy
metachromatic leukodystrophy and Fetal therapy
Hematopoietic stem cell transplantation
metachromatic leukodystrophy and Hematopoietic stem cell transplantation
Histocompatibility testing
metachromatic leukodystrophy and Histocompatibility testing
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medications search results for 'metachromatic leukodystrophy'
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web search results for metachromatic leukodystrophy
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- Arylsulfatase A deficiency
Metachromatic leukodystrophy - Wikipedia, the free encyclopedia
Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a ... deficiency · Metachromatic leukodystrophy. Glucocerebroside. Gaucher's ...
http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy
en.wikipedia.org
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summary
Metachromatic leukodystrophy - Genetics Home Reference
Metachromatic leukodystrophy affects myelin-producing cells, the major ... The most common form of metachromatic leukodystrophy, affecting about 50 to 60 ...
http://ghr.nlm.nih.gov/condition=metachromaticleukodystrophy
ghr.nlm.nih.gov
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summary
Molecular genetics of metachromatic leukodystrophy.
... 4(4):233-42. Molecular genetics of metachromatic leukodystrophy. ... Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. ...
http://www.ncbi.nlm.nih.gov/pubmed/7866401
www.ncbi.nlm.nih.gov
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Metachromatic Leukodystrophy Information Page: National Institute of ...
Metachromatic Leukodystrophy information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS)
http://www.ninds.nih.gov/disorders/metachromatic_leukodystro...
www.ninds.nih.gov
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MedlinePlus Medical Encyclopedia: Metachromatic leukodystrophy
MLD; Arylsulfatase A deficiency; Leukodystrophy - metachromatic. Definition Return to top. Metachromatic leukodystrophy (MLD) is a genetic disorder that affects ...
http://www.nlm.nih.gov/medlineplus/ency/article/001205.htm
www.nlm.nih.gov
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Metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, ... MLD; Arylsulfatase A deficiency; Leukodystrophy - metachromatic. Causes ...
http://adam.about.com/encyclopedia/infectiousdiseases/Metach...
adam.about.com
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Metachromatic Leukodystrophy
Metachromatic Leukodystrophy (Also Called 'MLD') What is Metachromatic Leukodystrophy? Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders ...
http://my.clevelandclinic.org/disorders/Metachromatic_Leukod...
my.clevelandclinic.org
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Molecular basis of different forms of metachromatic leukodystrophy.
Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal ... Leukodystrophy, Metachromatic/genetics. Molecular Sequence Data. Substances: DNA ...
http://www.ncbi.nlm.nih.gov/pubmed/1670590
www.ncbi.nlm.nih.gov
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Metachromatic Leukodystrophy
Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called ... term=(leukodystrophy+metachromatic+OR+metachromatic+leukodystrophy)+AND+hum an ...
http://www.ninds.nih.gov/disorders/metachromatic_leukodystro...
www.ninds.nih.gov
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Metachromatic leukodystrophy
... a family history of metachromatic leukodystrophy who are planning a pregnancy. ... What Is Metachromatic Leukodystrophy? Explore Health Topics A-Z. Must Reads ...
http://adam.about.com/encyclopedia/001205prv.htm
adam.about.com
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Metachromatic leukodystrophy - OMIM - Genetic disorder catalog ...
... condition summary on metachromatic leukodystrophy. ... OMIM topic: Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator ...
http://ghr.nlm.nih.gov/condition=metachromaticleukodystrophy/show/OMIM
ghr.nlm.nih.gov
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summary
[Metachromatic leukodystrophy simulating schizophrenia-like psychosis]
[Metachromatic leukodystrophy simulating schizophrenia-like psychosis] [Article ... A case of late onset metachromatic leukodystrophy with a clinical picture of ...
http://www.ncbi.nlm.nih.gov/pubmed/9411279
www.ncbi.nlm.nih.gov
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summary
Metachromatic leukodystrophy - Related Gene(s) - Genetics Home Reference
Genetic Conditions > metachromatic leukodystrophy > Related Gene(s) ... PSAP: prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy) ...
http://ghr.nlm.nih.gov/condition=metachromaticleukodystrophy...
ghr.nlm.nih.gov
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summary
Late-onset metachromatic leukodystrophy: genotype strongly influences ...
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. ... correlation in late-onset metachromatic leukodystrophy. Publication Types: ...
http://www.ncbi.nlm.nih.gov/pubmed/16966551
www.ncbi.nlm.nih.gov
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Metachromatic leukodystrophy - Patient support - For patients and ...
Genetic Conditions > metachromatic leukodystrophy > Patient support - For ... in the Genetics Home Reference condition summary on metachromatic leukodystrophy. ...
http://ghr.nlm.nih.gov/condition=metachromaticleukodystrophy...
ghr.nlm.nih.gov
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Metachromatic leukodystrophy: a model for the study of psychosis.
Metachromatic leukodystrophy: a model for the study of psychosis. Black DN, Taber KH, Hurley RA. ... Leukodystrophy, Metachromatic/diagnosis* Leukodystrophy, ...
http://www.ncbi.nlm.nih.gov/pubmed/12928504
www.ncbi.nlm.nih.gov
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Late-onset metachromatic leukodystrophy: molecular pathology in two ...
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. ... A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD) ...
http://www.ncbi.nlm.nih.gov/pubmed/1353340
www.ncbi.nlm.nih.gov
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Metachromatic leukodystrophy - Educational resources - Information ...
Genetic Conditions > metachromatic leukodystrophy > Educational resources ... in the Genetics Home Reference condition summary on metachromatic leukodystrophy. ...
http://ghr.nlm.nih.gov/condition=metachromaticleukodystrophy...
ghr.nlm.nih.gov
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Molecular genetic characterization of two metachromatic leukodystrophy ...
... genetic characterization of two metachromatic leukodystrophy patients who carry ... Metachromatic leukodystrophy (MLD) is an autosomal recessive storage disease ...
http://www.ncbi.nlm.nih.gov/pubmed/9600244
www.ncbi.nlm.nih.gov
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Leukodystrophy, Metachromatic
Important It is possible that the main title of the report Leukodystrophy, Metachromatic is not the name you expected. Please check the synonyms listing to find the ...
http://www.webmd.com/brain/leukodystrophy-metachromatic
www.webmd.com
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METACHROMATIC LEUKODYSTROPHY - Pedbase.org
PEDBASE.org - The Pediatric Database - Detailed information of METACHROMATIC LEUKODYSTROPHY ... Powered by Database of Pediatrics- METACHROMATIC LEUKODYSTROPHY ...
http://pedbase.org/m/metachromatic-leukodystrophy/
pedbase.org
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Leukodystrophy, Metachromatic - Yahoo! Health
Important It is possible that the main title of the report Leukodystrophy, Metachromatic is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/other-other/leukodystrophy-metachrom...
health.yahoo.com
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Metachromatic leukodystrophy: identification of the first deletion in ...
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and ... Metachromatic leukodystrophy (MLD), a lysosomal storage disease caused by the ...
http://www.ncbi.nlm.nih.gov/pubmed/9090526
www.ncbi.nlm.nih.gov
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Adult metachromatic leukodystrophy: disorganized schizophrenia-like ...
Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and ... We describe the cases of 2 sisters with adult metachromatic leukodystrophy (MLD) ...
http://www.ncbi.nlm.nih.gov/pubmed/15644995
www.ncbi.nlm.nih.gov
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Lysosomal Storage Disorders: Inherited Disorders of Metabolism: Merck ...
Metachromatic Leukodystrophy ... Metachromatic leukodystrophy is a sphingolipidosis caused by ... In metachromatic leukodystrophy (sulfatide lipidosis) ...
http://www.merck.com/mmpe/sec19/ch296/ch296f.html
www.merck.com
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Leukodystrophy - Wikipedia, the free encyclopedia
MLD Foundation for metachromatic leukodystrophy ... Multiple sulfatase deficiency · Metachromatic leukodystrophy. Glucocerebroside. Gaucher's disease ...
http://en.wikipedia.org/wiki/Leukodystrophy
en.wikipedia.org
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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?p=1
adam.about.com
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Leukodystrophy Information Page: National Institute of Neurological ...
Leukodystrophy information sheet compiled by NINDS. ... leukodystrophies include metachromatic leukodystrophy, Krabbé disease, ...
http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm
www.ninds.nih.gov
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Leukodystrophy
Leukodystrophy refers to progressive degeneration of the white matter of the ... leukodystrophies include metachromatic leukodystrophy, Krabbé disease, ...
http://www.clevelandclinic.org/health/health-info/docs/1200/1298.asp
www.clevelandclinic.org
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MedlinePlus: Leukodystrophies
Metachromatic Leukodystrophy(National Institute of Neurological Disorders and ... Genetics Home Reference: Metachromatic leukodystrophy(National Library of Medicine) ...
http://www.nlm.nih.gov/medlineplus/leukodystrophies.html
www.nlm.nih.gov
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Leukodystrophy
... is possible that the main title of the report Leukodystrophy is not the name you expected. Please check the synonyms ... Metachromatic Leukodystrophy ...
http://www.webmd.com/brain/leukodystrophy-10644
www.webmd.com
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Metachromatic leukodystrophy - References - Genetics Home Reference
Gieselmann V. Metachromatic leukodystrophy: recent research ... OMIM topic: Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator ...
http://ghr.nlm.nih.gov/condition=metachromaticleukodystrophy/show/References
ghr.nlm.nih.gov
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Health Encyclopedia from A to Z on Yahoo! Health
Health encyclopedia of diseases and conditions covering signs, symptoms, causes, incidence, risk, prevention, tests, diagnosis, treatment, complications and side effects.
http://health.yahoo.com/ency/
health.yahoo.com
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Health Library - Avera Health
Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, ... MLD; Arylsulfatase A deficiency; Leukodystrophy - metachromatic. Causes ...
http://averaorg.adam.com/content.aspx?productId=101&pid=1&gid=001205
averaorg.adam.com
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Health Information
A member of SSM Health Care. Body, Mind, Spirit... We care for the whole person. ... Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, ...
http://ssmhealth.adam.com/content.aspx?pid=1&gid=001205
ssmhealth.adam.com
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Brain and nervous system - Genetics Home Reference
ARSA deficiency see metachromatic leukodystrophy ... Arylsulfatase A Deficiency Disease see metachromatic leukodystrophy. AS see Angelman syndrome ...
http://www.ghr.nlm.nih.gov/conditionCategory=brainandnervoussystem
www.ghr.nlm.nih.gov
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Lipid Storage Diseases Publications: National Institute of Neurological ...
Lipid storage diseases information compiled by the National Institute of ... Metachromatic Leukodystrophy Information Page. Metachromatic Leukodystrophy ...
http://www.ninds.nih.gov/disorders/lipid_storage_diseases/pu...
www.ninds.nih.gov
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Orphanet: Metachromatic leukodystrophy
The portal for rare diseases and orphan drugs ... Metachromatic leukodystrophy is a neurodegenerative disease characterised by an ...
http://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=512
www.orpha.net
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Health Information - MMCI
MMCI - Methodist Medical Center, methodist hospital, Illinois hospital, ... Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, ...
http://mmci2.adam.com/content.aspx?productId=101&pid=1&gid=001205
mmci2.adam.com
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PSAP - prosaposin (variant Gaucher disease and variant metachromatic ...
metachromatic leukodystrophy - caused by mutations in the PSAP gene ... function, resulting in the signs and symptoms of metachromatic leukodystrophy. ...
http://ghr.nlm.nih.gov/gene=psap
ghr.nlm.nih.gov
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Arylsulfatase A Deficiency
Arylsulfatase A deficiency (metachromatic leukodystrophy or ... Metachromatic leukodystrophy (metachromischen leukodystrophien) was first used by Peiffer ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Lysosomal Storage Disorders: Inherited Disorders of Metabolism: Merck ...
Metachromatic Leukodystrophy. Metachromatic leukodystrophy is a sphingolipidosis ... In metachromatic leukodystrophy (sulfatide lipidosis), arylsulfatase A ...
http://www.merck.com/mmpe/print/sec19/ch296/ch296f.html
www.merck.com
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Lipid Storage Diseases Fact Sheet: National Institute of Neurological ...
... (also known as globoid cell leukodystrophy and galactosylceramide lipidosis) ... Metachromatic leukodystrophy, or MLD, is a group of disorders marked by storage ...
http://www.ninds.nih.gov/disorders/lipid_storage_diseases/de...
www.ninds.nih.gov
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ARSA - arylsulfatase A - Genetics Home Reference
metachromatic leukodystrophy - caused by mutations in the ARSA gene ... A activity show no signs or symptoms of metachromatic leukodystrophy. ...
http://ghr.nlm.nih.gov/gene=arsa/
ghr.nlm.nih.gov
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Arylsulfatase A Deficiency -- GeneReviews -- NCBI Bookshelf
Metachromatic leukodystrophy (metachromischen leukodystrophien) was first used ... Variable onset of metachromatic leukodystrophy in a Vietnamese family. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mld
www.ncbi.nlm.nih.gov
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WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Onset Metachromatic Leukodystrophy. Latex ...
http://www.webmd.com/a-to-z-guides/health-topics/la-le.htm
www.webmd.com
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Mutations in the arylsulfatase A pseudodeficiency allele causing ...
... suffering from late infantile metachromatic leukodystrophy who genetically ... was found only in 1 of 78 metachromatic leukodystrophy patients tested, five ...
http://www.ncbi.nlm.nih.gov/pubmed/1678251
www.ncbi.nlm.nih.gov
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ARSA - References - Genetics Home Reference
... arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. ... P, Nagels G. Metachromatic leukodystrophy: molecular genetics and an ...
http://ghr.nlm.nih.gov/gene=arsa/show/References
ghr.nlm.nih.gov
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The R496H mutation of arylsulfatase A does not cause metachromatic ...
... mutation of arylsulfatase A does not cause metachromatic leukodystrophy. ... arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD) ...
http://www.ncbi.nlm.nih.gov/pubmed/9744473
www.ncbi.nlm.nih.gov
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Leukodystrophy Organizations: National Institute of Neurological ...
Leukodystrophy information sheet compiled by NINDS. ... United Leukodystrophy Foundation. 2304 Highland Drive. Sycamore, IL 60178. office@ulf.org ...
http://www.ninds.nih.gov/disorders/leukodystrophy/org_leukodystrophy.htm
www.ninds.nih.gov
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