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Neuronal Ceroid Lipofuscinosis:     more detail

Lysosomal Storage Diseases: Tay-Sachs Disease, Canavan Disease, Sly Syndrome, Neuronal Ceroid Lipofuscinosis, Mucopolysaccharidosis The dissection of a degenerative disease: Proceedings of four round-table conferences on the pathogenesis of Batten's disease (neuronal ceroid-lipofuscinosis) Lipofuscin and Ceroid Pigments (Advances in Experimental Medicine and Biology) Batten Disease: Diagnosis, Treatment, and Research, Volume 45 (Advances in Genetics) The Official Parent's Sourcebook on Batten Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18 Lipofuscin and Ceroid Pigments: State of the Art 1995 (Journal - Gerontology, , Vol 41, Suppl. 2) (Pt.2) Dogs help track down genes.(MEDICAL UPDATE: Cutting-edge news from a source you can trust)(Batten disease): An article from: Saturday Evening Post Batten disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Michelle lee Brandt, Rosalyn, MD Carson-Dewitt, 2005 Batten disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Michelle Brandt, 2005 Batten disease (SuDoc HE 20.3502:B 32) by U.S. Dept of Health and Human Services, 1992

lists with details

61. Haema/Áßìá
    We had the opportunity to study a patient with juvenile neuronal ceroid lipofuscinosis,who had morphological alterations in his polymorphonuclear cells and  
    http://www.mednet.gr/eae/haema/h24-5.htm
    
    Extractions: Abstract. The ultrastructural features of the white blood cells from an 18 year old patient with juvenile ceroid lipofuscinosis (Batten's disease) are described. The most prominent finding was the decrease in granular content in the polymorphonuclear cells and the presence of numerous vacuoles in the lymphocytes, a part of them filled with lipid material. Some polymorphonuclears contained large granules with amorphous structure. These findings are consistent with those observed in Alder's anomaly. The difference from that anomaly and the abnormal findings in the white blood cells from patients with Batten's disease is discussed.

62. Clinical Neuropathology, 3/00
    Adult neuronal ceroid lipofuscinosis (Kufs’ disease) in two siblings of an Irishfamily. C. Callagy 1 , G. O’Neill 1 , SF Murphy 2 and MA Farrell 1,2.  
    http://www.clinnephrol.com/dustri/32neuropathology/32NP0003.HTM
    
    Extractions: metastatic renal cell carcinoma P.E. North, A. Mizeracki, M.C. Mihm, Jr. and R.E. Mrak........................................................................ Short reports Ependyma-lined cysts Z. Williams, M.K. Herrick and V. Tse........................................................................................................... Calf pseudohypertrophy in a patient with double neurogenic pathology G. Donato, P. Valentino, M. Santucci, A. Amorosi, M. Pittelli, L. Maltese, G. Volpentesta,

63. The Contact A Family Directory - Index N
    see Ichthyosis Neural Tube Defect see Spina Bifida Neuroblastoma Neurofibromatosisneuronal ceroid lipofuscinosis Type 1 (infantile) see Batten Disease  
    http://www.cafamily.org.uk/Idx/n.html
    
    Extractions: printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. NAGS Deficiency see Urea Cycle Disorders

64. WebMD/Lycos - Article
    Infantile Acquired Aphasia Infantile Epileptic Encephalopathy Infantile Finnish Typeneuronal ceroid lipofuscinosis (Balkan Disease) Infantile Gaucher Disease  
    http://webmd.lycos.com/NR/internal.asp?GUID={AB28CFEF-1C4F-44D6-ADFF-476F4BEDBFF

65. EC 3.4.14.9
    Deficient in classical lateinfantile neuronal ceroid lipofuscinosis braintissue. Belongs in peptidase family S53 (pseudomonapepsin family).  
    http://www.chem.qmw.ac.uk/iubmb/enzyme/EC3/4/14/9.html
    
    Extractions: IUBMB Enzyme Nomenclature Common name : tripeptidyl-peptidase I Reaction : Release of an N-terminal tripeptide from a polypeptide, but also endopeptidase activity Other names : tripeptidyl aminopeptidase; tripeptidyl peptidase Comments : A lysosomal enzyme that is active at acidic pH. Deficient in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Belongs in peptidase family S53 (pseudomonapepsin family). Formerly included in EC 3.4.14.8, tripeptidyl peptidase. Links to other databases BRENDA EXPASY MEROPS , CAS registry number: 151662-36-1 References 1. Ezaki, J., Tanida, I., Kanehagi, N. and Kominami, E. A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene ( ) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase. J. Neurochem. 72 (1999) 2573-2582. [Medline UI: 2. Rawlings, N.D. and Barrett, A.J. Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta

66. American Roentgen Ray Society
    The Answer is neuronal ceroid lipofuscinosis. Discussion Questions 1.The following are true regarding neuronal ceroid lipofuscinosis  
    http://www.arrs.org/edu/caseofweek/pediat/pediat98/cow98_0105/98_0105d.html
    
    Extractions: University of North Carolina School of Medicine, Chapel Hill, NC The Answer is: Discussion: The various forms of Neuronal Ceroid Lipofuscinoses comprise one of the most frequent neurodegenerative storage disorders occurring in infancy and childhood. In general there are four subtypes of the disease: infantile, late infantile, juvenile and adult, each with characteristic neurologic signs and symptoms. The disorders have an autosomal recessive mode of inheritance in infants, children and adults and rarely, an autosomal dominant mode of inheritance in adults. Although the four subtypes are nonallelic, they share the same basic clinical and pathological presentations. Neurologic signs include ataxia, choreoathetosis, stereotyped hand movements, muscular hypotonia, epilepsy, visual failure, and irritability. In NCL histologic examination reveals abnormal storage material which fills neuronal perikarya and oftentimes extends into the proximal axon. A striking feature of this disease is the yellow green autofluorescence of storage granules. Ultrastructural analysis is of major import as it discloses abundant lysosome-like structures with electron dense material and curvilinear structures. The etiology of these structures is not completely known however, "direct protein sequencing established that the major component is identical to the dicyclohexylcarbodiimide (DCCD) reactive proteolipid, subunit c, of mitochondrial ATP synthase and that this protein accounts for at least 50% of the storage body mass".

67. HONselect - Neuronal Ceroid-Lipofuscinosis
    Translate this page English neuronal ceroid-lipofuscinosis, - Batten Disease - ceroid-lipofuscinosis,neuronal - Jansky-Bielschowsky Disease - Kufs Disease - Spielmeyer-Vogt  
    http://www.hon.ch/HONselect/RareDiseases/C10.574.500.550.html

68. Juvenile Neuronal Ceroid-Lipofuscinosis (Juvenile Battens Disease)
    Juvenile neuronal ceroidlipofuscinosis. Until recently young people with Juvenile Batten's Disease in Britain have had  
    http://www.seeability.org/randd/jb.htm
    
    Extractions: Home Donations Stop Press Contacts ... Site Map Juvenile Batten's Main Page Overview Care in Partnership GPs Leaflet Nurses leaflet ... Research Until recently young people with Juvenile Batten's Disease in Britain have had nowhere that caters specifically for them. SeeAbility now provide a residential and day activity centre for young people with this disease together with an information network, database and support group. We have also produced a range of literature and research documents to help health professionals, parents and carers, which you can find on these web pages or printed versions are available on request, these include: (please note some of these research documents are large and may take some time to download) For further information please contact Sarah Kenrick, Manager, Heather House, Heather Drive

69. Viral-mediated Delivery Of The Late-infantile Neuronal Ceroid Lipofuscinosis Gen
    Research Article. Viralmediated delivery of the late-infantile neuronalceroid lipofuscinosis gene, TPP-I to the mouse central nervous system.  
    http://www.nature.com/cgi-taf/DynaPage.taf?file=/gt/journal/v10/n1/full/3301843a

70. (6[3]:225-228) Neuronal Ceroid-Lipofuscinosis - Late-Infantile Or Jansky-Bielsch
    "amaurotic familial idiocy" really had neuronal ceroid lipofuscinosis of the late-infantile or Jansky-Bielschowsky type,  
    http://brainpath.medsch.ucla.edu/abstracts/vol6/0603/63A3.HTM

71. GeneReviews: Neuronal Ceroid-Lipofuscinosis
    Your browser does not support HTML frames so you must view neuronal ceroidLipofuscinosisin a slightly less readable form. Please follow this link to do so.  
    http://www.geneclinics.org/profiles/ncl/?Lng=GB

72. (6[3]:225-228) Neuronal Ceroid-Lipofuscinosis - Late-Infantile Or Jansky-Bielsch
    (63225228) neuronal ceroid-lipofuscinosis - Late-Infantile or Jansky-BielschowskyType - Revisited Hans H. Goebel, Lieselotte Gerhard, Eiki Kominami, Matti  
    http://www.brainpathology.com/abstracts/vol6/0603/63A3.HTM

73. MeSH-D Terms Associated To MeSH-C Term Neuronal Ceroid-
    MeSHD terms associated to MeSH-C term neuronal ceroid-lipofuscinosis,G2D Home. The number indicates the strength of the association  
    http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Neuronal_Ceroid-Lipofuscinosis:res

74. Short Description Of Cell Lines. Pathology Neuronal Ceroid-
    Version 4.200205, Short description of cell lines. Pathology neuronalceroidlipofuscinosis infantile Finnish type 256730 OMIM record.  
    http://www.biotech.ist.unige.it/cldb/pat134.html

75. REFINED GENETIC-MAPPING OF JUVENILE-ONSET NEURONAL CEROID-LIPOFUSCINOSIS ON CHRO
    Detailed Record. Journal Title REFINED GENETICMAPPING OF JUVENILE-ONSETNEURONAL ceroid-lipofuscinosis ON CHROMOSOME-16. Author(s  
    http://www.genome.uci.edu/journalview.asp?num=65

76. Dorlands Medical Dictionary
    ceroidlipofuscinosis, neuronal ceroid-lipofuscinosis, a term for several geneticlipidoses of diverse biochemical and clinical characteristics, all  
    http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

77. Orthoguide.com Neuronal Ceroid-Lipofuscinosis
    Search results for neuronal ceroidlipofuscinosis . NO MATCHES FOUND-Pleaseselect a different keyword or category OR Search AltaVista  
    http://www.orthoguide.com/ortho/Neuronal_Ceroid-Lipofuscinosis.php3

78. REPROGEN
    Back to top. Characterization and development of a DNA test for the diagnosisof neuronal ceroidlipofuscinosis in Merino sheep. Personnel  
    http://www.vetsci.usyd.edu.au/reprogen/research/genomics/ovine.html

79. Neurogenetics
    1 ceroid lipofuscinosis, neuronal, dominant, Parry Type. 2 ceroid lipofuscinosis,neuronal 1, infantile ( Santavuori of SantavuoriHaltia Disease ).  
    http://www.homepages.hetnet.nl/~b1beukema/ziekneurogen.html
    
    Extractions: Neurogenetics ; Stoornissen betreffende ceroid lipofuscine Neurogenetics : Huntington Disease Huntington disease Prion Diseases : Creutzfeldt-Jakob Disease Kuru Gerstmann-Sträussler-Scheinker Syndrome Stoornissen betreffende Ceroid Lipofuscine : Ceroid Lipofuscinosis, neuronal, dominant, Parry Type Ceroid Lipofuscinosis, neuronal 1, infantile Santavuori of Santavuori-Haltia Disease Ceroid Lipofuscinosis, neuronal 2, late infantile Jansky Bielschowsky Disease Ceroid Lipofuscinosis, neuronal 3, juvenile Vogt-Spielmeyer Disease Ceroid Lipofuscinosis, neuronal 4 Kufs Disease Ceroid Lipofuscinosis, neuronal 5 Ceroid Lipofuscinosis, juvenile neuronal, with granular osmiophilic deposits Ceroid Lipofuscinosis, neuronal 6, late infantile, variant Ceroid Lipofuscinosis, neuronal, 8 Hoofdmenu Indeling stofwisselingsziekten Oren; Ogen; Huid; Ingewanden Andere, niet eerder genoemde stoornissen, met een progressieve neurologische en mentale achteruitgang. Stoornissen met meervoudige aangeboren misvormingen.

80. Search By Disease
    Records 106 120 106 ceroid lipofuscinosis, neuronal 2, late infantiletype (CLN2). 107 ceroid lipofuscinosis, neuronal 3, juvenile (CLN3).  
    http://www.eddnal.com/directory/disease.php?letter=C&page=8

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