Geometry.Net - Health_Conditions: Mps Iii

Mucopolysaccharidosis Type MPS III-A (Sanfilippo-Syndrome) Clinical And Histopat
P 693. Mucopolysaccharidosis type mps iiiA (Sanfilippo-Syndrome) clinical andhistopathological findings in a case with typical ocular manifestation.
http://www.dog.org/2000/e-abstract_2000/693.html

Extractions: th Annual Meeting DOG 2000 P 693 Mucopolysaccharidosis type MPS III-A (Sanfilippo-Syndrome) clinical and histopathological findings in a case with typical ocular manifestation C.-A. Lackerbauer, G. Rudolph, K.-P. Boergen, A. Kampik Backround: Mucopolysaccharidosis (MPS) type III-A represents a rare, autosomal-recessive inherited, metabolic disease with lysosomal storage characteristics. Only few proven cases with nearly all systemic changes and typical ocular manifestation have been described. Methods: The ophthalmological and systemic findings of an 13-year old male patient suffering from MPS type III-A will be pesented. The diagnosis is confirmed by slit-lamp examination, perimetric and electrophysiological findings as well as radiological and biochemical analysis and electron microscopy of fibroblast cells. Results: With a reduced intelligence clumsy facial changes and behavioural disorders like disorders of speech development, weakness of concentration and sleep disorders are most impressive. The X-ray examination presents sceletal changes like dysostosis multiplex. An atrophia of the optical nerve and circular retinal pigmentary degeneration in the 50° area exist on both eyes. In the Goldmann perimetric examination (III ) a concentric visual field (30°) is seen on both sides. The best visual acuity is 1/20. Amplitudes in the scotopic and photopic ERG are reduced up to 85%. The CPC test of the 24-hour urin was 156,6 Units/gCrea (norm: 0-140) and hexuronacid (54,5mg/gCrea) is 3,5 times normal (norm:9,6-14,8). Fibroblasts of the dermis demonstrate normal activity of
Glycosaminoglycans And Proteoglycans
mps iii A Sanfilippo A, Heparan Nsulfatase, heparan sulfate, profound mentaldeterioration, hyperactivity, skin, brain, lungs, heart and skeletal muscle are
http://www.indstate.edu/thcme/mwking/glycans.html

Extractions: Return to Medical Biochemistry Page 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.
Lysosomal Storage Diseases
Syndrome. Type II (MPS II) Hunter's Syndrome Pediatric Databaseinfo on Hunter's Syndrome. Mucopolysaccharidoses Type III (mps iii)
http://www.indstate.edu/thcme/mwking/mucopolysaccharidoses.html

Extractions: Type II (MPS II) - Hunter's Syndrome Mucopolysaccharidoses Type III (MPS III) Mucopolysaccharidoses Type IV (MPS IV) Type V (MPS V) a designation that is no longer used Type VI (MPS VI) - Maroteaux-Lamy Syndrome Type VII (MPS VII) - Sly Syndrome Type VIII (MPS VIII) a designation that is no longer used back to Inborn Errors Page Return to Medical Biochemistry Page
Diagnosen
Translate this page MPS I / V (Hurler/Scheie), a-L-Iduronidase. mps iii (Sanfilippo), Typ IIIA, Sulfamidase. mps iii (Sanfilippo), Typ III B, a-N-Acetylglucosaminidase.
http://www.uni-bc.gwdg.de/bio_2/figura/diagnosen.html

Extractions: Diagnostic service Diagnostik General Information The institute offers help in the prenatal and postnatal diagnosis of lysosomal storage disorders and congenital disorders of glycosylation (CDG). Im Rahmen der prae- und postnatalen Diagnostik von lysosomalen Speicherkrankheiten und Defekten der Glykoproteinbiosynthese (CDG) werden die folgenden Leistungen angeboten. 1. Kultivieren von Hautfibroblasten
EMedicine - Mucopolysaccharidosis Type III : Article Excerpt By: Donald Nash, Ph
The four subgroups of mps iii are as follows type IIIA (Sanfilippo A), type IIIB(Sanfilippo B), type IIIC (Sanfilippo C), and type IIID (Sanfilippo D). The
http://www.emedicine.com/ped/byname/mucopolysaccharidosis-type-iii.htm

Extractions: (advertisement) Synonyms, Key Words, and Related Terms: MPS, MPS-III, Sanfilippo syndrome, Sanfilippos syndrome, MPS type IIIA, Sanfilippo A, MPS type IIIB, Sanfilippo B, MPS type IIIC, Sanfilippo C, MPS type IIID, Sanfilippo D Background: The mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders that are caused by the deficiency of specific lysosomal enzymes and the lysosomal accumulation of glycosaminoglycans (GAGs or mucopolysaccharides). Each type of MPS is associated with a particular enzymatic deficiency, although the various disorders share many clinical features. Because the MPSs are ubiquitous, multiple organ systems can be involved, resulting in hearing and visual defects, cardiovascular functional impairments, hepatosplenomegaly, and dysostosis multiplex. Severe mental retardation can also occur and is usually associated with Hurler syndrome (MPS-IH), Hunter syndrome (MPS-II), and Sanfilippo syndrome (MPS-III). Although the MPSs are very rare individually, the overall incidence is approximately 1 in 25,000 people. Diagnosis is made by determination of the specific enzymatic activity in cultured fibroblasts or leukocytes. Prenatal diagnosis using cultured amniocytes or chorionic villi is also possible.
EMedicine - Mucopolysaccharidoses Types I-VII : Article Excerpt By: Janette Balo
syndrome, MPS type V, MPS type IH/S, HurlerScheie syndrome, MPS type II, Huntersyndrome, MPS type III-A, Sanfilippo syndrome type A, mps iii-B, Sanfilippo
http://www.emedicine.com/derm/byname/mucopolysaccharidoses-types-i-vii.htm

Extractions: (advertisement) Synonyms, Key Words, and Related Terms: MPS, lysosomal storage disease, glycosaminoglycans, GAGs, MPS type I-H, Hurler syndrome, MPS type I-S, Scheie syndrome, MPS type V, MPS type I-H/S, Hurler-Scheie syndrome, MPS type II, Hunter syndrome, MPS type III-A, Sanfilippo syndrome type A, MPS III-B, Sanfilippo syndrome type B, MPS III-C, Sanfilippo syndrome type C, MPS type III-D, Sanfilippo syndrome type D, MPS type IV-A, Morquio syndrome, MPS type IV-B, MPS type VI, Maroteaux-Lamy syndrome, MPS type VII, Sly syndrome Background: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases, each of which is produced by an inherited deficiency of an enzyme involved in the degradation of acid mucopolysaccharides (now called glycosaminoglycans [GAGs]). These diseases are autosomal recessive, except for MPS type II, which is X-linked. Pathophysiology: GAGs are long, linear polysaccharide molecules composed of repeating dimers, each of which contains a hexuronic acid (or galactose in the case of keratan sulfate) and an amino sugar. The large proteoglycan molecules made up of protein cores and GAG branches are secreted by cells and constitute a significant fraction of the extracellular matrix of the connective tissue. The turnover of these molecules depends on their subsequent internalization by endocytosis, their delivery to the lysosomes, and their digestion by lysosomal enzymes. The enzyme deficiencies lead to the accumulation of mucopolysaccharides in the lysosomes of the cells in the connective tissue and to an increase in their excretion in the urine. The types of MPSs linked to specific enzyme deficiencies are listed below; some have been assigned an Enzyme Commission (EC) number.
81 - SOL:PFPS TRANSIT CASE MPS III TRANSIT (08/24/98)
81 PFPS TRANSIT CASE mps iii TRANSIT SOL FD202082-Q-17253 DUE 082598 POCFor copy, No solicitation will be issued., This is the solicitation.,, For
http://www.fbodaily.com/cbd/archive/1998/08(August)/24-Aug-1998/81sol003.htm

Extractions: COMMERCE BUSINESS DAILY ISSUE OF AUGUST 24,1998 PSA#2165 Directorate Of Contracting, Oo-Alc 6050 Gum Lane/Bldg 1215, Hill Air Force Base, Ut 84056-5825 http://www.nist.gov/admin/od/contract/repcert.htm http://ccr.edi.disa.mil See Note (s) 1. Posted 08/20/98 (I-SN239393). (0232) Loren Data Corp. http://www.ld.com 81 - Containers, Packaging and Packing Supplies Index Page
CNS FAQ On MPS III
CNS Consulting FAQ on mps iii. Is mps iii available on KSU machines? Where?How can I use it? . mps iii is no longer available.
http://www.ksu.edu/InfoTech/faq/archive/faq/mpsiii.html
Startseite Der Kinderklinik Der Uni Mainz
Translate this page mps iii A, M. Sanfilippo A, Heparan-N-Sulfamidase (L,F), HS/CS. MPSIII B, M. Sanfilippo B, N-Azetyl-alpha-Glukosamini-dase (S,F), HS/CS.
http://www.uni-mainz.de/FB/Medizin/Allgemein/Klinikum/biochlab.htm

Extractions: Fachbereich 4 (Medizin) und ist Teil des 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 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
Biochemisches Labor Der Kinderklinik Der Johannes-Gutenberg-
Translate this page mps iii A, M. Sanfilippo A, Heparan-N-Sulfamidase (L,F), HS/CS. MPSIII B, M. Sanfilippo B, N-Azetyl-a-Glukosamini-dase (S,F), HS/CS.MPS
http://www.kinder.klinik.uni-mainz.de/aglyso/AGLabor.html

Extractions: der Johannes-Gutenberg-Universität Mainz Postadresse: Kinderklinik der Johannes-Gutenberg-Universität Mainz Biochemisches Labor Leitung: Prof. Dr. med. M. Beck Langenbeckstraße 1 D-55131 Mainz, Deutschland Tel.: +49 - (0) 61 31 - 17 23 98 oder - 27 81 Fax: +49 - (0) 61 31 - 17 66 93 beck@kinder.klinik.uni-mainz.de Diagnostisches Angebot Untersuchungsmaterial und Hinweise zur Probenvorbereitung Enyzmatische Analysen sind im Serum, Leukozyten und Fibroblasten möglich. Folgende Analysen (einschließlich pränataler Diagnosen) können im Biochemischen Labor der Kinderklinik Mainz durchgeführt werden: 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 TYP ENZYM-DEFEKT (Material) URIN-AUSSCHEIDUNG MPS I M. Hurler; M. Hurler/Scheie
Biochemical Laboratory Of The University Of Mainz Children´s
F,AFC,CVS. sulfamidase (EC 3.10.1.1), Sanfilippo A Disease (mps iii A),35Srelease from 35S-heparin, L,F,AFC,CVS. a-N-acetylglucosaminidase
http://www.kinder.klinik.uni-mainz.de/aglyso/enAGLabor.html

Extractions: Biochemical Laboratory of the University of Mainz Children´s Hospital Address: Johannes-Gutenberg-University Mainz Children´s hospital Biochemical laboratory Consultant: Professor M. Beck MD Langenbeckstrasse 1 D-55131 Mainz, Germany Tel.: +49 - (0) 61 31 - 17 23 98 or - 27 81 Fax: +49 - (0) 61 31 - 17 66 93 beck@kinder.klinik.uni-mainz.de Diagnostic tests: 1. GROUP SCREENING TESTS Group Method Specimen oligosaccharides TLC 24 hrs urine (deep frozen or fresh) Metabolite Disorder Method Specimen mucopolysaccharides Mucopolysaccharidoses DMB-test, fractionation by electrophoresis 24 hrs urine (deep frozen or fresh) neuraminic acid Salla-Disease TLC 24 hrs urine (deep frozen or fresh) E nzyme Disorder Method Specimen iduronidase (EC 3.2.1.76) Hurler/Scheie Disease(MPS I) 4-MU release from 4-MU-iduronide L,F,AFC,CVS iduronate-S-sulfatase
MPS Brasil - Onde Buscar Ajuda
Translate this page sem ensaio enzimático Cromatografia/eletroforese dos GAGs urinários compatívelcom mps iii mps iii não classificada Cromatografia/eletroforese dos GAGs
http://www.mpsbrasil.org.br/textos/caneladez01_draida.htm

Extractions: 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
MPS Brasil - 2o. Congresso Brasileiro Sobre Mucopolissacaridoses
Translate this page O papel das associações de pais - Cristine Lavery (Inglaterra) 12 de Outubro (Sábado)0830 - 0900 - Desafios em mps iii - Ed Wraith (Inglaterra) 0900 - 09
http://www.mpsbrasil.org.br/2Encontro - Salvador/2encontrobrasileiro.htm

Extractions: See the pictures 09 Dezembro 2002 Informações sobre o evento O encontro foi realizado no Bahiamar Hotel , na cidade de Salvador - BA e contou com a presença de pessoas de todo o Brasil. Familiares e portadores tiveram a oportunidade de tirar dúvidas, trocar informações e experiências com outras famílias e também com profissionais da área médica e educacional. Tivemos o prazer de receber palestrantes internacionais como o Dr Ed Wraith (Inglaterra), Dr Joe Munzer (USA), Dr Paul Harmatz (USA), Dr Shunji Tomatsu (USA/Japão) e Christine Lavery (Inglaterra). Vários portadores e familiares de MPS tiveram a oportunidade de mostrar o seu ponto de vista para os presentes. Depoimentos foram feitos pelo Celso, Simone, Ines... Pudemos conhecer as pinturas do Sidney , ouvir a Júlia cantando e a poesia do Dudu... Contamos com o apoio de jornais e canais de TV da Bahia, que entrevistaram os organizadores, palestrantes, pacientes e suas famílias, exibindo as matérias em horário nobre da TV, colaborando assim para a divulgação do trabalho. Graças ao patrocínio recebido dos laboratórios de pesquisa, foi possível transportar e hospedar gratuitamente muitas famílias de todo o país, além de distribuir livretos especialmente preparados pela equipe de Genética do Hospital de Clínicas de Porto Alegre.
Asociación Española Para El Estudio De Los Errores Congénitos
Translate this page Suero. Heparán N-sulfatasa. Sanfilippo A (mps iii A). Radio. Leucocitos, Fibroblastos.N-acetil-a-glucosaminidasa. Sanfilippo B (mps iii B). Fluor.
http://www.ae3com.org/recursos/ibc/ibctecniques.htm
Microsoft Business Solutions - MPS III: Finplanlægning
Udskriv siden, mps iii Finplanlægning. mps iiimodulet bruges til finplanlægningaf produktionsforløb, herunder oprettelse af nøjagtige produktionsplaner.
http://www.navision.com/dk/view.asp?documentid=1463&categoryid=394
Ntsad's What Every Family Should Know: The Allied Diseases Profiled
AR. Back to top. 2) Disorders of mucopolysaccharide degradation. HurlerSyndrome (mps iii), aLIduronidase, 252800, Yes. Yes. 4. AR. Scheie
http://www.ntsad.org/pages/ntsad.htm

Extractions: The Allied Diseases Profiled TAY-SACHS AND THE ALLIED DISEASES ARE GENETIC CONDITIONS CLASSIFIED as storage diseases. They are caused by the abnormal accumulation, or storage, of certain waste products in the cells or tissues of affected individuals. As these products build up, cells become damaged and gradually lose their ability to function properly, causing disease symptoms. While the specific clinical courses of these related disorders differ, there are certain commonalities, and children and adults affected with Tay-Sachs or any of the allied diseases share many issues associated with chronic, progressive illness. T he chart below provides a quick reference for the major characteristics of the allied diseases. Underlined words are links to more information on this site or elsewhere on the Internet. The Omim # refers to the catalogue citation on the Online Mendelian Inheritance In Man , the hypertext version of Victor McCusick's landmark catalogue of human genetic disease. A dditionally, the following Allied Diseases are profiled in more depth in their own sections: T his information is provided in response to a growing demand for knowledge and in the hopes of increasing awareness and understanding of these rare, but often devastating, diseases.
Instytut Psychiatrii I Neurologii
Choroba Sanfilippo A (mps iiiA), Sulfataza siarczanu heparanu, ChorobaSanfilippo B (mps iii-B), Alfa-glukozoaminidaza, Choroba Sanfilippo
http://www.ipin.edu.pl/o_zg.htm

Extractions: OFERTA W SKALI KRAJU I. Diagnostyka chorób metabolicznych, genetycznie uwarunkowanych(g³ównie lizosomalnych), w tym diagnostyka prenatalna. Choroby lizosomalne Zak³ad Genetyki IPN jest jedyn± placówk± w Polsce wykonuj±c± komplet badañ laboratoryjnych pozwalaj±cych na rozpoznanie chorób lizosomalnych (tab. 1). II. Diagnostyka molekularna (analiza DNA) chorób uk³adu nerwowego, chorób nerwowo-miê¶niowych i innych (badania przedkliniczne, badanie nosicielstwa). Nazwy chorób: Choroba (pl±sawica) Huntingtona (tylko w IPN). Dystrofia miê¶niowa Duchenne'a/Beckera (badania prenatalne tylko w IPN). Rdzeniowy zanik miê¶ni (choroba Werdniga-Hoffmanna, choroba Kugelberga-Welander) (tylko w 2 o¶rodkach krajowych, w tym w IPN).
Metabolism And Molecular Pediatrics - Laboratory Tests
sulfatesulfatase). mps iii A, M. Sanfilippo A, heparin sulfamidase.mps iii B, M. Sanfilippo B, N-acetyl-alpha-glucosaminidase. MPS
http://www.kispi.unizh.ch/stomol_main/Stomol_LabTests.html

Extractions: To perform the appropriate diagnostic tests, it is of great importance to discuss the clinical, radiological and biochemical differential diagnosis with the referring physician first. Before sending any material, please contact B. Steinmann or A. Superti-Furga. For technical questions, please contact N. Bosshard. Send specimens to the following address: Division of Metabolism and Molecular Pediatrics University Children's Hospital Steinwiesstrasse 75 CH-8032 Zurich Switzerland
Letter From Duke University, June 5, 2002
review of the denial of benefits by Kaiser Permanente for transplantation therapyfor the Bennett children for treatment of mps iii (Sanfillipo Syndrome).
http://www.helpachild.net/bennett/publicity/letters/Kurtzberg_letter.html

Extractions: I am writing to an expedited review of the denial of benefits by Kaiser Permanente for transplantation therapy for the Bennett children for treatment of MPS III (Sanfillipo Syndrome). Both children have had preliminary evaluations at Duke and appear to be candidates for the transplant procedure. Their older sister Ciara has sustained significant damage from the disease and is not a candidate for the procedure. Tommy and Hunter will need to complete evaluations at Duke University Medical Center to confirm their candidacy for the procedure. These tests cannot be performed without a source of funds for reimbursement. If eligible, the children would be prepared for transplantation with high dose chemotherapy using busulfan, cyclophosphamide and ATG for a total of 9 days. They would be transplanted with a 4/6-6/6 antigen matching, unrelated umbilical cord blood graft from the COBLT Bank delivering a cell dose of at least 3x10e7 nucleated cells/kg. Transplantation with a UCB graft of this size and match grade results in an engraftment rate of 100% and an overall event-free-survival of 85%.
Health Library - Sanfilippo Syndrome
Sanfilippo Syndrome (mps iii), an autosomal recessive hereditary disorder, ischaracterized by severe mental deterioration, mild physical defects and the
http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

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