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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

81. Diseases Of Brain
    metachromatic leukodystrophy, M, Brain, metachromatic leukodystrophy (low power).metachromatic leukodystrophy, M, Brain, metachromatic leukodystrophy (low power).  
    http://155.37.5.42/NAV/MSBrain.HTM
    
    Extractions: Diseases of Brain Diagnosis G/M Organ Caption Immature G Brain Immature infant brain Immature G Brain Immature Fetal Brain Agenesis of Corpus Callosum G Brain Agenesis of Corpus Callosum Anencephaly G Brain Anencephaly Anencephaly G Brain Anencephaly Anencephaly G Brain Anencephaly with iniencephaly Anencephaly G Brain Anencephaly Anencephaly G Brain Anencephaly Anencephaly G Brain Anencephaly Arnold Chiari Malformation G Brain Arnold-Chiari Malformation Arnold Chiari Malformation G Brain Arnold-Chiari Malformation Arnold Chiari Malformation G Brain Arnold Chiari Malformation Contusion G Brain Old contusion Encephalocele G Brain Encephalocele Encephalocele G Brain Encephalocele Holoprosencephaly G Brain Semilobar holoprosencephaly Holoprosencephaly G Brain Cyclops / Holoprosencephaly Hydranencephaly G Brain Hydranencephaly Hydrocephalus G Brain Hydrocephalus Hydrocephalus G Brain Hydrocephalus Hydrocephalus G Brain Hydrocephalus Lissencephaly G Brain Lissencephaly Microcephaly G Brain Microcephaly Polymicrogyria G Brain Polymicrogyria Porencephaly G Brain Porencephalic Cyst Tuberous sclerosis G Brain Tuberous Sclerosis Abscess G Brain Abscess Abscess G Brain Cerebellar Abscess Abscess M Brain Abscess Abscess M Brain Abscess Abscess M Brain Abscess Abscess M Brain Tissue surrounding Abscess Meningitis G Brain Meningitis and IVH Meningitis M Brain Meningitis Meningitis M Brain Meningitis

82. Genes Related Hypertension
    307800, HYP, metachromatic leukodystrophy HYP XLH HYPOPHOSPHATEMIA, VITAMINDRESISTANT RICKETS VITAMIN D-RESISTANT RICKETS, X-LINKED HYPOPHOSPHATEMIC D  
    http://cmbi.bjmu.edu.cn/peptide1/pepb.htm
    
    Extractions: or mmdbID Alias Brady Kinin and Potentiators Brady Bradykinin Antagonist BRADYKININ RECEPTOR B2; BDKRB2 bk126b4.1 (novel protein) [Homo sapiens] bk1048e9.2 (similar to ce02118) [Homo sapiens] bk1216h12.2 (kiaa0609 (c. elegans k09c8.4 like) protein) [Homo sapiens] bk116f5.2 (putative rhogap (cdc42 gtpase activating protein) like protein) [Homo sapiens] bk116f5.1 (unknown putative protein) [Homo sapiens]

83. Demyelinating Neuropathies
    Xlinked IX. Krabbe; Marinesco-Sjögren; metachromatic leukodystrophy;Niemann-Pick; Pelizaeus-Merzbacher (PLP); Refsum; Prion protein  
    http://www.neuro.wustl.edu/neuromuscular/nother/myelin.html

84. Horizon Molecular Medicine
    phosphate synthetase deficiency, Carbohydrate deficient glycoprotein syndrome, Maplesyrup urine disease, metachromatic leukodystrophy, Methylmalonic acidemia  
    http://www.horizonmedicine.com/symptomguide.asp
    
    Extractions: Anemia/thrombocytopenia Gaucher disease Homocystinuria Isovaleric acidemia Methylmalonic acidemia ... Propionic acidemia Arthritis/joint abnormalities Hemochromatosis Mucopolysaccharidoses Wilson disease Ataxia/unsteady gait Angelman syndrome Argininosuccinic acid lyase deficiency Argininosuccinic acid synthetase deficiency Biotinidase deficiency ... Tyrosinemia type III Cardiomyopathy/Cardiac problems Carnitine palmitoyltransferase II deficiency Fabry disease Glycogen storage disease Hemochromatosis ... Wilson disease Developmental delay/mental retardation X-linked adrenoleukodystrophy Angelman syndrome Arginase deficiency Argininosuccinic acid lyase deficiency ... Niemann-Pick disease types A, B, and C

85. Leukodystrophy
    A little technical. metachromatic leukodystrophy (MLD) Infomrationfrom the Duke University for Patients and their families. United  
    http://www.foundhealth.com/Health/Conditions_and_Diseases/L/Leukodystrophy/
    
    Extractions: Advertisement Foundhealth.com Search All Terms Any Term Tips Browse foundhealth.com Health calculators Fast Food Database Speakers Bureau How to evaluate sites Submit a site Contact us Home - main directory Top Health Conditions and Diseases L : Leukodystrophy Globoid Cell - Krabbe Alexander disease mini information sheet - From the National Institutes of Health (USA) The Amn-Ald Community Pages - Support site for families dealing with the diseases AMN/ALD (one form of the many Leukodystrophies). Canavan Foundation - Not-for-profit foundation providing information about Canavan disease, prenatal screening, support, and reasearch. Canavan Research Fund - The Canavan Research Fund is a not-for-profit organization dedicated to pioneering research that can treat and eventually cure Canavan and other genetic brain diseases. DrKoop.com - Adrenoleukodystrophy - Information about the causes, symptons, tests available and treatment of this condition. Leukodystrophy - CHORUS document on the different types of Leukodystrophy. A little technical.

86. Patient 37 Selftest
    Patient 37 metachromatic leukodystrophy 1. All of the following diseasesare transmitted via autosomal recessive inheritance EXCEPT  
    http://www.bcm.tmc.edu/neurol/challeng/pat37/selftest.html

87. Nradnormal.html
    metachromatic leukodystrophy. Back to Other Directory.Back to Neuroradiology Directory. Back to Home.  
    http://www.uiowa.edu/~c064s01/nr287.htm

88. Scholz-Bielschowsky-Henneberg Disease (www.whonamedit.com)
    ScholzBielschowsky-Henneberg disease metachromatic leukodystrophy.A collective term for a possibly rather heterogeneous group  
    http://www.whonamedit.com/synd.cfm/1710.html
    
    Extractions: Arylsulfatase A, familial progressive cerebral sclerosis, cerebroside sulfatase deficiency syndrome, leucodystrophie métachromique infantile familiale (French), leukoencephalopathy, leukodystrophia cerebri progressiva, metachromatic leukodystrophy, metachromatica diffusa leukodystrophy, type Scholz; sulfatide lipidosis. Metachromatic leukodystrophy. A collective term for a possibly rather heterogeneous group of fatal diseases with dystrophy of the white matter of the brain. This error of metabolism occurs in several forms: congenital, late infantile, adolescent, and adult (with and without arylsulphatase A deficiency). It is caused by a deficiency of the enzyme aryl sulfatase. A metachromatic material is deposited in the brain, peripheral nerves, liver, kidney, and frequently the urine. This material, sulfated lipids, would normally be degraded to cerebrosides. The course is characterised by paralysis, blindness, and severe mental retardation.

89. Cerebral Sclerosis, Diffuse
    metachromatic leukodystrophy,; metachromatic leukodystrophy,; MULTIPLESULFATASE DEFICIENCY; metachromatic leukodystrophy Med. Coll.  
    http://www.ohsu.edu/cliniweb/C10/C10.228.140.276.html

90. The Myelin Project: Glossary
    Arylsulfatase A The lack of this enzyme results in the toxic accumulation of sulfatidedeposits in metachromatic leukodystrophy, leading to demyelination of  
    http://www.myelin.org/glossary.htm
    
    Extractions: Glossary Adrenoleukodystrophy: A rapidly progressive X-linked genetic disorder characterized by the accumulation of saturated very long chain fatty acids (VLCFA) that affects the white matter of the nervous system and the adrenal glands. Arylsulfatase A: The lack of this enzyme results in the toxic accumulation of sulfatide deposits in metachromatic leukodystrophy, leading to demyelination of the CNS. Astrocyte: See Glia. Asymptomatic: Having a disease without manifestation of symptoms. Axon: Myelin-ensheathed tail of the neuron that is responsible for carrying impulses away from the neuron cell body. Many interwoven axons make up a nerve. Biopsy: The removal and microscopic examination of a tissue sample taken from the living body to establish an exact diagnosis, check for signs of disease, or assess the results of a surgical or pharmacological intervention. Blood-brain barrier: A selectively permeable, protective barrier that limits the passage of substances in the bloodstream into brain tissue. It is believed to be formed by astrocytes and blood vessels.

91. Atlas Of Ultrastructural Neurocytology
    Fig. 7.2.4.1. metachromatic leukodystrophy; Fig. 7.2.4.2. metachromatic leukodystrophy;Fig. 7.2.4.3. Globoid cell leukodystrophy Krabbe´s disease; Fig.  
    http://synapses.bu.edu/atlas/7_2_4intro.stm

92. Leukodystrophy
    CHORUS document on the different types of leukodystrophy. A little technical.Category Health Conditions and Diseases leukodystrophyleukodystrophy. type of dysmyelinating disease hereditary; peripheralnervous system unaffected in some disorders. Specific diseases  
    http://chorus.rad.mcw.edu/doc/00231.html

93. UNITED LEUKODYSTROPHY FOUNDATION
    Nonprofit, voluntary health organization dedicated to providing patients and their families with informat Category Health Conditions and Diseases leukodystrophyUNITED leukodystrophy FOUNDATION. Email the ULF. This site last modifiedFeb. 23, 2003. (c) United leukodystrophy Foundation, Inc. Webmaster.  
    http://www.ulf.org/
    
    Extractions: FAX: (815) 895-2432 The United Leukodystrophy Foundation (ULF), incorporated in 1982, is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness and acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. Leukodystrophies are a group of genetic nervous system disorders affecting the myelin sheath, which insulates the axon through which nerve impulses are conducted. The ULF is supported solely by donations. Frequently asked questions about ULF Who are the people behind the ULF? Endowment Fund and Funding Opportunities, Medical Research Agencies of America Send comments or apply for membership ... Links to disability resources on the web The ULF Public Information VIDEO narrated by Tim Conway (ULF video catalogue #162). This video is available for rent by our members or sale to anyone. For more information on this and other videos

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

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

96. CJNS-Isolated Peripheral Neuropathy In Atypical Metachromatic Leukodystrophy: A
    Abstract, Close Window Isolated Peripheral Neuropathy in Atypical MetachromaticLeukodystrophy A Recurrent Mutation. Marion B. Coulter  
    http://www.canjneurolsci.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.

97. PN & CNS
    CENTRAL NERVOUS SYSTEM INVOLVEMENT NEUROPATHY.  
    http://www.neuro.wustl.edu/neuromuscular/nanatomy/cns.html

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