61. 2001-Fu-GENE THERAPY OF SANFILIPPO SYNDROME USING ADENO-ASSOCIATED VIRAL VECTORS Mucopolysaccharidoses type III B (Sanfilippo syndrome B, mps iii B) is an AAVNSE-EGFP was microinjected into the thalamic area of the mps iii B mouse http://www.biolchem.ucla.edu/mps/01therapy/abstracts/MuenzerJ-MPS IIIB therapy.h

GENE THERAPY OF SANFILIPPO SYNDROME USING ADENO-ASSOCIATED VIRAL VECTORS. Hiayan Fu and Joseph Muenzer. University of North Carolina, Chapel Hill, NC ( muenzer@med.unc.edu Mucopolysaccharidoses type III B (Sanfilippo syndrome B, MPS III B) is an autosomal recessive disorder caused by the deficiency of the lysosomal enzyme -N-acetylglucosaminidase (NaGlu), resulting in lysosomal accumulation of heparan sulfate. The Sanfilippo syndrome is characterized by hyperactivity, mild somatic involvement, but severe neurological degeneration leading to premature death. No definite treatment is available for patients with Sanfilippo syndrome. The goal of this study was to investigate the potential of AAV-mediated recombinant NaGlu (rNaGlu) for the treatment of the neurological disease in MPS III B using a knock-out mouse model (Li et al , PNAS, 1999, 96:14505). Two recombinant AAV vectors, AAV-NSE-hNaGlu and AAV-NSE-EGFP, containing either a human NaGlu coding region cDNA or an enhanced green fluorescent protein gene (EGFP), driven by a neuron-specific enolase (NSE) promoter, were constructed. AAV-NSE-hNaGlu viral vector was delivered into the thalamus of adult MPS III B mouse brains by a single direct microinjection (10 transducing units in 1 l over 10 min) to study AAV-mediated expression of NaGlu and the correction of lysosomal storage. AAV-NSE-EGFP was microinjected into the thalamic area of the MPS III B mouse brain, to visualize the distribution of transduction by a single injection. Efficient expression of NaGlu (5-100 fold higher than that in normal mouse brain) was detected in the injected thalamic tissues compared with that in non-injected contralateral tissues, and persisted at a high level for at least 6 months after a single injection. Decreased vacuolization was seen in the neurons in most thalamic nuclei involving an area of approximately 1.5 mm surrounding the infusion site for at least 3 months after the infusion. Neurons, including large multipolar neurons, were observed to be the major target of the AAV-NSE-EGFP vector, in an area of approximately 500-600

62. National Referral Laboratory mps iii (Sanfilippo) Type C. Urine analysis; GlucosamineN-acetyl transferase ($). EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, http://www.health.adelaide.edu.au/NRL/tests_alpha2.htm

Data is current to 31st August, 2001 Disease Index: A B C D E F G H I ... P Q R S T U V W X Y Z This page contains a list of the disorders tested in our laboratory. The list is focussed on lysosomal and peroxisomal disorders but also includes other genetic disorders for which there are reliable biochemical test protocols existing in the laboratory. This page can be navigated in various ways. You can search our Alphabetical disease index (above) for links to tests for a specific disorder, jump using the Disease group index The disease names are also cross referenced to OnLine Mendelian Inheritance in Man (OMIM). Click a disorder to find out the latest information. Enzyme analyses are performed weekly and most mutation analyses are performed within 10 days. The turn-around time for prenatal diagnoses depends on the approach (direct analysis or cell culture) but every effort is made to provide the speediest result for the patient. Alphabetical disease index Acyl CoA oxidase deficiency Adrenoleucodystrophy (ALD), neonatal Adrenoleucodystrophy (ALD), X-linked Adrenomyeloneuropathy (AMN), X-linked ... Zellweger syndrome Disease group index Neurolipidoses Mucopolysaccharidoses Peroxisomal disorders Glycogen storage disorders ... Miscellaneous NEUROLIPIDOSES Neurolipidoses Screen (or White Cell/Lysosomal Enzymes): Our laboratory offers a first-tier screen for lysosomal storage disorders using 14 lysosomal enzymes (cost) . The screen requires 10mL EDTA blood or the corresponding leucocytes but can also be performed on

63. Katalog Maszynopisów AAP - Baza Danych 937, mps iii/91, mps iii/91, xx, Jak moga dzis umacniac rodzice wiare i moralnosc 938, mps iii/92, mps iii/92, xx, Co mówi dzis Kosciól i medycyna o http://www.aap.poznan.pl/bazy/maszynopisy.php?limit=930

64. Katalog Maszynopisów AAP - Baza Danych 887, mps iii/41, mps iii/41, Suhard Emanuel abp, Kaplan w spolecznosci List pasterski 891, mps iii/45, mps iii/45, Danielou Jean, Milosc Boga i milosc http://www.aap.poznan.pl/bazy/maszynopisy.php?limit=885

65. Accessing Article Patients with mps iii Sanfilippo present with learning difficulties and severe There were two patients with MPS II Hunter and one patient had mps iii http://www.nature.com/eye/journal/vaop/ncurrent/full/6701921a.html

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? Most users gain access to full text articles through a site license. This is available to institutional customers only. For further information visit the Librarian Gateway. Full-text articles are also available through a number of other options: I want to purchase this article Select this option to view this article immediately and access it for seven days. Price: US$30* In order to purchase this article you must be a registered user. Click here to register or log in above. I want to subscribe to Eye Select this option to purchase a personal subscription. I am already a personal subscriber to Eye Personal subscribers to Eye can view this article. To do this you need to associate your subscription with your registration via the My Account page. If you already have an active online subscription, log in via the login box in the top right-hand corner of this page. I am a member of The Royal College of Ophthalmologists Members of The Royal College of Ophthalmologists receive access to Eye as part of their membership.

66. Rarelink.net - Diagnoselisten Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis type IIIA (mps iii) Mucopolysaccharidoseforeningen i Danmark FUBs intressegrupp för MPSsjukdomar http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=243&synonymId=436

67. Genetics And Molecular Biology - A Useful Routine For Biochemical Detection And The lowest values were detected in mps iii and MPS IV patients (although 2 or 3 times greater than the normal agerelated values), while the highest values http://www.scielo.br/scielo.php?pid=S1415-47571998000100028&script=sci_arttext&t

68. Rarelink.net - Diagnoselisten Sanfilippos Sykdom (MPS III) Du er her Hjem Diagnoselisten Sanfilippos sykdom (mps iii) Foreldregruppen for MPSsykdommer FUBs intressegrupp för MPS-sjukdomar http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=243&synonymId=436

69. Infos Translate this page Untersuchungen zu Mutationen bei mps iii A Patienten – mögliche therapeutische Perspektiven. mps iii A (Morbus Sanfilippo A) ist eine http://www.mps-ev.de/wissenschaft/infos/infos_04.htm

Es werden verschiedene Methoden verwendet: Immunologischer Nachweis, ob das Enzymprotein gebildet wird, zum Lysosom transportiert wird und stabil ist (Western Blot und radioaktive Markierung der Sulfamidase) Immunologischer Nachweis der Lokalisation des mutanten Proteins innerhalb der Zelle mittels Immunfluoreszenz- Mikroskopie. Dr. med. Nicole Muschol, Seite drucken Seite schließen

70. Selbsthilfe: Berichte Von Betroffenen Translate this page Spuren der Hoffnung (Lea, mps iii). Lea Der Tag, an dem sich unser ganzes Leben mit einem Mal änderte war der Tag im Oktober 2002, als wir von der tödlichen http://www.mps-ev.de/selbsthilfe/betr_berichte/bericht_17.htm

Spuren der Hoffnung (Lea, MPS III) Wir haben unseren Mut wieder gefunden und geben uns keinesfalls mit dieser Aussicht geschlagen. Wir nehmen den Kampf auf und lassen uns nichts wegnehmen, ohne alles probiert zu haben. Wir haben gefunden, was eh schon immer da war: Die Natur, die uns hilft, wenn wir es zulassen. www.dolphin-aid.com Seite drucken Seite schließen

71. Gesellschaft Für Mukopolysaccharidosen Und ähnliche Erkrankungen Translate this page Kinder mit einer mps iii leiden besonders in den unruhigen Phasen an gravierenden Schlafstörungen. Sie schlafen eventuell nur wenige Stunden, http://www.mps-austria.at/site.asp?var=sub2311

72. Gesellschaft Für Mukopolysaccharidosen Und ähnliche Erkrankungen Translate this page Sanfilippo C, mps iii C, Sialinsäure-Speicherererkrankung. Sanfilippo D, mps iii D, Multipler Sulfatase-Defekt. Morquio A, MPS IV A, Aspartylglukosaminurie http://www.mps-austria.at/site.asp?var=sub23

73. Karger Publishers Eleven patients with mps iii were evaluated and presented an overall increased Only 1 patient with mps iii presented a mild aortic insufficiency, http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

74. Rarelink.net - Diagnoslistan Sanfilippos Sjukdom (MPS III) Du är här Hem Diagnoslistan Sanfilippos sjukdom (mps iii) Foreldregruppen for MPSsykdommer FUBs intressegrupp för MPS-sjukdomar http://www.rarelink.se/diagnosedetail.jsp?diagnoseId=243&synonymId=436

75. Bienvenue Sur Le Site De L'association VML - Vaincre Les Maladies Lysosomales Translate this page La mucopolysaccharidose de type III (mps iii) ou maladie de Sanfilippo est une maladie de surcharge lysosomale, du groupe des mucopolysaccharidoses. http://www.vml-asso.org/maladies/sanfilippo.php

Mucopolysaccharidoses Sanfilippo Source Orphanet retour 27/05/2005 : Traitement de la maladie de Maroteaux Lamy Rencontre bénévoles 2005 ... Challenge Anne-Claire le 3 juillet 2005 à Mercues (46)

76. Startseite Der Kinderklinik Der Uni Mainz Translate this page mps iii C, M. Sanfilippo C, N-Azetyl-Transferase (F), HS/CS. mps iii D, M. Sanfilippo D, N-Azetylglucosamin-6-Sulfatase (F), HS/CS. MPS IV A, M. Morquio A http://www.uni-mainz.de/FB/Medizin/Allgemein/Klinikum/biochlab.htm

Biochemisches Labor der Kinderklinik Biochemisches Labor der Kinderklinik Fachbereich 4 (Medizin) und ist Teil des Postanschrift: Leitung: Priv. Doz. Dr. M. Beck Telefon: 06131/17 2652 This page in English! Diagnostisches Angebot Sonstiges Molekulargenetisches Labor der Kinderklinik Diagnostisches Angebot Mukopolysaccharidosen: Mukopolysaccharidose I (Hurler/Scheie), II (Hunter), III A, B und C (Sanfilippo A, B und C), IV (Morquio), VI (Maroteaux-Lamy) und VII (Sly). Gangliosidosen: GM1-Gangliosidose, GM2-Gangliosidose (M. Tay-Sachs, M. Sandhoff) Lipid-Speicherkrankheiten: M. Gaucher, M. Niemann-Pick, M. Fabry Metachromatische Leukodystrophie, M. Schindler MUKOPOLYSACCHARIDOSEN TYP ENZYM-DEFEKT URIN-AUSSCHEIDUNG MPS I M. Hurler; M. Hurler/Scheie; M. Scheie alpha-Iduronidase (L,F) DS/HS MPS II M. Hunter Iduronat-S-Sulfatase (S,F) DS/HS MPS III A M. Sanfilippo A Heparan-N-Sulfamidase (L,F) HS/CS MPS III B M. Sanfilippo B N-Azetyl-alpha-Glukosamini-dase (S,F) HS/CS MPS III C M. Sanfilippo C N-Azetyl-Transferase (F) HS/CS MPS III D M. Sanfilippo D

77. Välkommen Till MPS-föreningen mps iii Sanfilippo. Tyvärr inga studier på gång för tillfället men man forskar Tkt hoppas kunna utveckla sitt program för mps iii om studien de vill http://www.mpsforeningen.fub.se/forskning.htm

skip to: page content links on this page site navigation footer (site information) Aktuell forskning och behandling Hem Senaste nytt Introduktion till MPS-sjukdomar Aktuell forskning ... Länkar MPS I : Hurler, H/S, Scheie MPS II : Hunter MPS III : Sanfilippo MPS IV A : Morquio MPS VI : Marateaux-Lamy Fas II studien som gjorts visade: Om oss

78. Genetyka Kliniczna Choroba Sanfilippo A (mps iiiA). Sulfataza siarczanu heparanu. Choroba Sanfilippo B (mps iii-B). Alfa-glukozoaminidaza. Choroba Sanfilippo C (mps iii-C) http://www.genetyka.lekarz.net/plac/ipin.php

genetyka.lekarz.net >> AKTUALNO¦CI Placówki poradnie genetyczne zak³ady i laboratoria diagnostyczne inne struktury Organizacje polskie miêdzynarodowe Specjalizacja program problemy inne szkolenia i specjalizacje Wybrane zagadnienia kliniczne embriogeneza dysmorfologia wady rozwojowe zespo³y chorobowe genetyka nowotworów immunogenetyka farmakogenetyka poradnictwo genetyczne Diagnostyka cytogenetyka badania molekularne inne zagadnienia diagnostyczne Diagnostyka przedurodzeniowa uwagi ogólne diagnostyka przedimplantacyjna diagnostyka i terapia p³odu techniki, metody zagadnienia etyczne i prawne Varia genetyka populacyjna ¶rodowisko a zdrowie genetyczne problemy etyczne Linki organizacje zespo³y chorobowe ró¿ne Kontakt jasky@polbox.com Placówki >> Zak³ady i laboratoria diagnostyczne; Strona w wersji próbnej Choroby lizosomalne diagnozowane w Zak³adzie Genetyki Instytutu Psychiatrii i Neurologii w Warszawie Nazwa choroby Nazwa enzymu o obni¿onej aktywno¶ci lub spichrzanej substancji Sulfatydoza, Leukodystrofia metachromatyczna Arylosulfataza A Sulfatydoza wieloenzymatyczna Arylosulfatazy A, B i C

79. MPS Brasil - Mucopolissacaridoses Translate this page Cromatografia/eletroforese dos GAGs urinários compatível com mps iii GAGs chromatography/electrophoresis compatible with mps iii nonclassified mps iii http://www.mpsbrasil.org.br/textos/caneladez01_draida.htm

06 Março 2002 Material apresentado pela Dra Ida Schwartz no Simpósio Internacional de Novas Terapias para Doenças Lisossômicas de Depósito em Dez/2001. Desejando reproduzir, contacte: Material presented by Dr Ida Schwartz at the International Symposium on Novel Therapies for Lysosomal Storage Disorders Dec/2001. If you want to reproduce, please contact: Hospital de Clínicas de Porto Alegre - RS Serviço de Genética Médica www.hcpa.ufrgs.br/genetica genetica@hcpa.ufrgs.br MPS NO BRASIL: ESTUDOS CLÍNICOS E DADOS EPIDEMIOLÓGICOS Ida Vanessa D. Schwartz, Ursula Matte, Osvaldo Artigalas, Fabiano Broillo, Maira G. Burin, Roberto Giugliani Serviço de Genética Médica Hospital de Clínicas de Porto Alegre Departamento de Genética e Bioquímica Universidade Federal do Rio Grande do Sul - Brazil SERVIÇO DE GENÉTICA MÉDICA DO HCPA Estudos clínicos em: MPS I (concluído) MPS II (em andamento, patrocinado pelo NORD) MPS VI (em breve) Estudos moleculares em: MPS I (concluído) MPS II (patrocinado pelo NORD), IV-A, IV-B e VI (em andamento)

80. Stofwisselingsstoornissen - FvO mps iii werd voor het eerst herkend in 1958 door Meyer en later Bij elkaar genomen vormen de mps iii subtypes het meest voorkomende type van de http://www.fvo.nl/index.php?option=com_content&task=view&id=4615&Itemid=44

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