21. Ben's Dream - UNC Grant Summary Home University of North Carolina Chapel Hill, Dr. Joseph Muenzer Gene therapy research on Sanfilippo B Syndrome (mps iii B) directed by Dr. Joseph Muenzer http://www.bensdream.org/uncgrant.html

Research Home University of North Carolina - Chapel Hill, Dr. Joseph Muenzer Although, we have not succeeded in proving that the enzyme produced after the injection of AAV vectors into the brain of animals corrects the GAG storage, studies with primary mouse brain cell cultures are very encouraging. We have been able to establish primary cultures of MPS III B mouse brain, kidney, liver and skin fibroblast cells. The AAV gene therapy vectors, when added to the cell cultures, are capable of producing the NaGlu enzyme in these MPS III B primary cell cultures, including brain cell, and the storage of GAG is corrected. In addition, AAV expressed enzyme is secreted by the cultured brain cells into the culture media. This secreted enzyme is also able to correct the storage of GAG when added to MPS III B mouse brain cells in culture. These experiments support the concept that AAV vectors can deliver the MPS III B human gene to brain cells, and the enzyme produced will correct the storage of GAG in the central nervous system.

22. Infos Translate this page Untersuchungen zu Mutationen bei mps iii A Patienten – mögliche therapeutische Perspektiven. mps iii A (Morbus Sanfilippo A) ist 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

23. Mps Typ I - VI: Typ III Translate this page Mukopolysaccharidose Typ III (mps iii) wurde 1963 zum ersten Mal von dem Arzt Dr. Sanfilippo und seiner Arbeitsgruppe beschrieben. http://www.mps-ev.de/mps_typ/typ_iii/typ_iii.php

mps Typ I - VI Startseite mps Typ I - VI Typ III Überblick ... Typ II Typ III Ursachen Krankheitsformen Häufigkeit Vererbung ... Typ VI Typ III (Sanfilippo-Syndrom) Sitemap Impressum Kontakt mps-ev ... Links Schnellsuche zum download

24. Gesellschaft Für Mukopolysaccharidosen Und ähnliche Erkrankungen Translate this page MPS Typ III - Das Sanfilippo-Syndrom. SCHLAFSTÖRUNGEN. Kinder mit einer mps iii leiden besonders in den unruhigen Phasen an gravierenden Schlafstörungen. http://www.mps-austria.at/site.asp?var=sub2311

25. Gesellschaft Für Mukopolysaccharidosen Und ähnliche Erkrankungen Translate this page Hunter, MPS II, ML IV, Sanfilippo A, mps iii A, Mannosidose, Sanfilippo B, mps iii B, Fukosidose, Sanfilippo C, mps iii C, Sialinsäure-Speicherererkrankung, http://www.mps-austria.at/site.asp?var=sub23

26. MPS III From FOLDOC Register a Domain. mps iii. Solving matrices and producing reports. mps iii DATAFORM User Manual , Management Science Systems (1976). http://www.instantweb.com/foldoc/foldoc.cgi?MPS III

27. Disease Directory : MPS III: Sanfilippo Syndrome Diseases Genetic Disorders Sanfilippo Syndrome mps iii Sanfilippo Syndrome. Directory Listing. Title mps iii Sanfilippo Syndrome http://www.diseasedirectory.net/detailed/10452.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Sanfilippo Syndrome : MPS III: Sanfilippo Syndrome Directory Listing Title: MPS III: Sanfilippo Syndrome Description: Information, including the causes, different forms, the inheritance and how the disorder progresses. Date Added: 2/4/2004 1:24:51 PM URL: http://www.mpssociety.org/mps3.html

28. Sanfilippos Sykdom (MPS III) Her er du nå ProUnik førsteside Diagnoser Mukopolysakkaridosesykdommer gruppeomtale Sanfilippos sykdom (mps iii). Sanfilippos sykdom (mps iii). http://www.frambu.no/prounik/modules/module_109/publisher_view_product.asp?iEnti

29. Sanfilippos Sykdom (MPS III) Skriv ut. Sanfilippos sykdom (mps iii). Sanfilippos sykdom (mps iii). Ved Sanfilippos sykdom (også kalt mps iii) er ofte adferdsproblemer første symptom. http://www.frambu.no/modules/module_109/publisher_view_product.asp?iEntityId=807

30. HONselect - Mucopolysaccharidosis III mps iii A - mps iii B - mps iii C - mps iii D. http://www.hon.ch/HONselect/RareDiseases/C17.300.550.575.650.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Mucopolysaccharidosis III - Polydystrophic Oligophrenia - Sanfilippo's Syndrome - MPS III A - MPS III B - MPS III C - MPS III D Français: MUCOPOLYSACCHARIDOSE TYPE 3 - OLIGOPHRENIE POLYDYSTROPHIQUE LAMY-MAROTEAUX - SANFILIPPO, MALADIE Deutsch: Mukopolysaccharidose Typ III - Polydystrophische Oligophrenie - Sanfilippo-Krankheit Español: MUCOPOLISACARIDOSIS III - OLIGOFRENIA POLIDISTROFICA - SINDROME DE SANFILIPPO Português: MUCOPOLISSACARIDOSE III - OLIGOFRENIA POLIDISTROFICA - SINDROME DE SANFILIPPO HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C17.300.550.575.650.html Last modified: Wed Apr 28 2004

31. MPS III mps iii Sanfilippo. sanfilippo.gif (174947 bytes)Sanfilippo Syndrome is also known as mps iii. It takes its name from Dr. Sylvester http://www.mpssociety.org.au/mps_iii.htm

Home What's New MPS Society MPS Diseases ... Site Map MPS III - Sanfilippo Characteristics of MPS III Medical Problems of those affected by MPS III Current Research into MPS III Sanfilippo Syndrome is also known as MPS III. It takes its name from Dr. Sylvester Sanfilippo who was one of the doctors in the United States who described the condition in 1963. To date four different enzyme deficiencies have been found to cause Sanfilippo Syndrome and so the condition is described as type A, B, C, or D. These enzymes are: Sanfilippo A Heparan-N-sulphatase Sanfilippo B a -N-Acetylgucosaminidase Sanfilippo C AcetylCoA:N-acetyltransferase Sanfilippo D N-Acetylglucosamine 6-sulphatase There is usually very little difference between the four types of the disorder but there have been some very mild cases of the B form where the affected individuals have remained relatively healthy into adult life. The latest understanding is that some people seem to produce some enzyme activity which helps to slow down the progression of the disorder whilst those with more severe symptoms appear to have no enzyme activity (or function) at all. It is important to understand that all those with Sanfilippo syndrome have the same condition, even if some have a milder form. The combined incidence of Sanfilippo syndrome is 1 in 66,000, however each of the particular types is rarer again. The Australian prevalence of MPS IIIA is 1 in 114,000, MPS IIIB is 1 in 211,000, MPS IIIC is 1 in 1,407,000 and MPS IIID is 1 in 1,056,000.

32. CharaterIII Characteristics of mps iii. mps iii is a disorder largely characterised by neurological deterioration. Although babies with mps iii http://www.mpssociety.org.au/charateriii.htm

Home What's New MPS Society MPS Diseases ... Site Map Characteristics of MPS III MPS III is a disorder largely characterised by neurological deterioration. Although babies with MPS III usually appear normal at birth, over time characteristic symptoms begin to appear such as: Behavioural problems Sleep disturbance Loss of skills such as speech and learning Frequent respiratory infections Mental retardation in the severe forms Bone deformities and joint stiffness Epilepsy Sanfilippo children grow to a fairly normal height and changes in appearance may be less than in other MPS diseases. The hair is thick and coarser than usual and their bodies may be hairier than normal. The eyebrows are often dark and bushy and may meet in the middle. Noses tend to be upturned and flat on the bridge. The disorder will affect children differently and its progress will be much faster in some cases than in others. Change will usually be very gradual and therefore easier to adjust to. The disorder tends to have three main stages. The first during the child's pre-school years may be a very frustrating one for the parents. They begin to worry as their child starts to lag behind their friend's children in development and they may feel they are being blamed for the child's overactive and difficult behaviour.

33. Glycosaminoglycans And Proteoglycans mps iii A Sanfilippo(A), Heparan Nsulfatase, skin, brain, lungs, heart and skeletal muscle are affected in all 4 types of MPS-III. http://www.med.unibs.it/~marchesi/glycans.html

Glycosaminoglycans Glycosaminoglycans (GAGs) Characteristics of GAGs Proteoglycans Clinical Significances ... Mucopolysaccharidoses Glycosaminoglycans and Proteoglycans The most abundant heteropolysaccharides in the body are the glycosaminoglycans (GAGs) . These molecules are long unbranched polysaccharides containing a repeating disaccharide unit. The disaccharide units contain either of two modified sugars N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc) and a uronic acid such as glucuronate or iduronate . GAGs are highly negatively charged molecules, with extended conformation that imparts high viscosity to the solution. GAGs are located primarily on the surface of cells or in the extracellular matrix (ECM). Along with the high viscosity of GAGs comes low compressibility, which makes these molecules ideal for a lubricating fluid in the joints. At the same time, their rigidity provides structural integrity to cells and provides passageways between cells, allowing for cell migration. The specific GAGs of physiological significant are hyaluronic acid dermatan sulfate chondroitin sulfate heparin heparan sulfate , and keratan sulfate Although each of these GAGs has a predominant disaccharide component (see Table below), heterogeneity does exist in the sugars present in the make-up of any given class of GAG.

34. MPS III - General Practice Notebook mps iii. Medical search. Sanfilippo syndrome is a lysosomal disease caused by defects in one of four enzymes involved in the degradation of heparan sulphate. http://www.gpnotebook.co.uk/medwebpage.cfm?ID=1745223728

35. Sanfilippo Syndrome Sanfilippo Syndrome (mps iii), an autosomal recessive hereditary disorder, is characterized by severe mental deterioration, mild physical defects and the http://my.webmd.com/hw/raising_a_family/nord290.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Sanfilippo Syndrome Important It is possible that the main title of the report Sanfilippo Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms MPS Disorder III MPS III Mucopolysaccharidosis Type III Oligophrenic Polydystrophy Polydystrophia Oligophrenia Disorder Subdivisions Sanfilippo Type A Sanfilippo Type B General Discussion Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities. Sanfilippo Syndrome (MPS III), an autosomal recessive hereditary disorder, is characterized by severe mental deterioration, mild physical defects and the excretion of heparan sulfate in the urine. There are four types of Sanfilippo Syndrome; types A and B are the most common forms.

36. Glycosaminoglycans And Proteoglycans mps iii A Sanfilippo A, Heparan Nsulfatase, heparan sulfate, profound mental deterioration, hyperactivity, skin, brain, lungs, heart and skeletal muscle are http://www.dentistry.leeds.ac.uk/biochem/thcme/glycans.html

Glycosaminoglycans Characteristics of GAGs Proteoglycans Clinical Significances ... Return to Medical Biochemistry Page Glycosaminoglycans The most abundant heteropolysaccharides in the body are the glycosaminoglycans (GAGs) . These molecules are long unbranched polysaccharides containing a repeating disaccharide unit. The disaccharide units contain either of two modified sugars- N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc) and a uronic acid such as glucuronate or iduronate . GAGs are highly negatively charged molecules, with extended conformation that imparts high viscosity to the solution. GAGs are located primarily on the surface of cells or in the extracellular matrix (ECM). Along with the high viscosity of GAGs comes low compressibility, which makes these molecules ideal for a lubricating fluid in the joints. At the same time, their rigidity provides structural integrity to cells and provides passageways between cells, allowing for cell migration. The specific GAGs of physiological significance are hyaluronic acid dermatan sulfate chondroitin sulfate heparin heparan sulfate , and keratan sulfate . Although each of these GAGs has a predominant disaccharide component (see Table below), heterogeneity does exist in the sugars present in the make-up of any given class of GAG.

37. :: Ez2Find :: Sanfilippo Syndrome URL http//www.curekirby.org; mps iii Sanfilippo Syndrome Site Info - Translate - Open New Window Information, including the causes, different forms http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Sanfilippo Syndrome Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Sanfilippo Syndrome ez2Find Home Directory Health Conditions and Diseases ... Genetic Disorders : Sanfilippo Syndrome Related Categories Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders Web Sites Bennett Children's Foundation [Site Info] [Translate] [Open New Window] Founded by parents of three young children who suffer from Sanfilippo Syndrome, a degenerative genetic disorder that is usually fatal before the teens. Raising awareness of the condition and enlisting financial support. URL: http://www.helpachild.net

38. MPS Brasil - Mucopolissacaridoses Translate this page sem ensaio enzimático Cromatografia/eletroforese dos GAGs urinários compatível com mps iii mps iii não classificada Cromatografia/eletroforese dos GAGs 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)

39. MPS Brasil - Mucopolissacaridoses Translate this page MPS-II, 9. MPS-III, 13. MPS-IV, 10. mps iii Sanfilippo A, Heparan-N-Sulfamidase (L,F,LA,VC), HS/CS. mps iii Sanfilippo B, N-Acetil-Glicosaminidase (S,F,LA,VC), HS/CS. http://www.mpsbrasil.org.br/1EncontroHCPA_Ago2001/1oEncontroBrasilMPS.htm

1º Encontro Brasileiro sobre Mucopolissacaridoses 04 de Agosto 2001 04 Setembro 2001 Selecione o assunto Comissão Organizadora Fita de vídeo com as palestras apresentadas Fotos Informações sobre o evento Material Informativo de MPS em Português Mensagens das MPS Societies Palestrantes e especialistas Patrocinadores Informações sobre o evento O 1º Encontro Brasileiro sobre Mucopolissacaridoses aconteceu no dia 04 de Agosto de 2001 no Anfiteatro do HCPA - Hospital de Clínicas de Porto Alegre tendo como público alvo os pacientes, familiares, amigos e profissionais envolvidos no acompanhamento e tratamento de crianças, adolescentes ou adultos com mucopolissacaridoses (MPS). Dados do evento fornecidos pelo HCPA: inscritos profissionais da área da saúde (63%) familiares e pacientes (37%) Foram discutidos aspectos clínicos e laboratoriais das MPS, novas opções de tratamento e diagnóstico. Durante o encontro houve o lançamento oficial de material informativo em português sendo distribuída uma cópia para todos os presentes. Este material foi elaborado pela Equipe de Genética do HCPA com base em material da MPS Society dos Estados Unidos e nos casos acompanhados no HCPA. O grande número de participantes e a alta qualidade das palestras comprovou que já era necessário um evento sobre este assunto no Brasil. Graças ao

40. Phorum - OLD Canadian MPS Forum - MPS AND AUTISM / AUTISTIC SYMPTOMS When this has happened it is often that the child has Sanfilippo or mps iii as some of the clinical manifestations seem to be similar to features of autism. http://www.mpssociety.ca/phorum/read.php?f=1&i=39&t=39

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