21. 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

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

22. 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

Select From The Following for More Details 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.

23. 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

Mucopolysaccharidoses Type I (MPS I) 3 forms: Hurler=Type I H; Scheie=Type I S; Hurler/Scheie=Type I H/S Pediatric Database info on Hurler Syndrome Type II (MPS II) - Hunter's Syndrome Pediatric Database info on Hunter's Syndrome Mucopolysaccharidoses Type III (MPS III) Sanfilippo Type A Sanfilippo Type B Sanfilippo Type C Sanfilippo Type D ... Pediatric Database info on Sanfilippo Mucopolysaccharidoses Type IV (MPS IV) Morquio's Type A Morquio's Type B Pediatric Database info on Morquio's Type V (MPS V) a designation that is no longer used Type VI (MPS VI) - Maroteaux-Lamy Syndrome Pediatric Database info on 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 Michael W. King, Ph.D / IU School of Medicine / mking@medicine.indstate.edu Last modified: Thursday, 10-May-01 10:13:43

24. 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

Prof. Dr. K. von Figura Zentrum Biochemie und Molekulare Zellbiologie Abt. Biochemie II 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 2. Quantitative Bestimmung der Mukopolysaccharide im Urin Oligosaccharidmuster im Urin Sulfatide im Urin Enzymbestimmungen in Leukozyten , Serum, kultivierten Hautfibroblasten , kultivierten Amnion- oder Chorionzellen oder Chorionzotten Arylsulfatase A-Pseudodefizienzallel (molekulargenetisch). 7. Bioassays in kultivierten Fibroblasten: Abbau sulfatierter Mukopolysaccharide Sulfatidabbau Diagnostic material - Diagnostisches Material Hautfibroblasten Das Diagnostiklabor nimmt etablierte Fibroblastenkulturen oder Hautbiopsate an. Letztere sollten telefonisch avisiert werden (Frau Diederich, 0551-392127, zwischen 8.00 und 12.00 Uhr). Auf Anforderung wird steriles Kulturmedium zum Versand der Hautbiopsate zugeschickt. Leukozyten Kultivierte Amnion- bzw. Chorionzellen

25. 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

(advertisement) Excerpt from Mucopolysaccharidosis Type III Synonyms, Key Words, and Related Terms: MPS, MPS-III, Sanfilippo syndrome, Sanfilippo’s syndrome, MPS type IIIA, Sanfilippo A, MPS type IIIB, Sanfilippo B, MPS type IIIC, Sanfilippo C, MPS type IIID, Sanfilippo D Please click here to view the full topic text: Mucopolysaccharidosis Type III 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.

26. 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

(advertisement) Excerpt from Mucopolysaccharidoses Types I-VII 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 Please click here to view the full topic text: Mucopolysaccharidoses Types I-VII 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.

27. 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

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

28. 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

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. It was removed from KSUVM as of July 1. Those wishing to collaborate on an alternative for Unix or personal computers should contact Dr. John Wu, Industrial Engineering, 532-5606. Home Search What's New Help ... Computing and Network Services June 23, 1997

29. 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

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

30. 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

Biochemisches Labor der Kinderklinik 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 Diagnostisches Angebot 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 MUKOPOLYSACCHARIDOSEN TYP ENZYM-DEFEKT (Material) URIN-AUSSCHEIDUNG MPS I M. Hurler; M. Hurler/Scheie

31. 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

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) 2. SPECIFIC METABOLITE ASSAYS 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) 3. ENZYME ASSAYS 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 (EC 3.1.6.13) Hunter Disease (MPS II) 35S-release from 35S-disaccharide S,F,AFC,CVS

32. 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

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)

33. 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

II Congresso Brasileiro de MPS 11 e 12 Outubro 2002 Salvador, BA - Brasil Veja as fotos 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.

34. 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

35. 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

36. 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

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: Tay-Sachs Disease Late-Onset Tay-Sachs Disease Sandhoff Disease Fabry Disease ... Canavan Disease 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.

37. 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

OFERTY US£UG MEDYCZNYCH ZAK£AD GENETYKI Kierownik: Prof. dr hab. Jacek Zaremba tel. 8427650, centrala 642 66 11 w. 310, fax 858 91 69 DZIA£ALNO¦Æ DIAGNOSTYCZNO-PROFILAKTYCZNA ZAK£ADU GENETYKI INSTYTUTU PSYCHIATRII I NEUROLOGII (IPN) 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). Choroba Wilsona (zwyrodnienie w±trobowo-soczewkowe), próba z miedzi± radioaktywn±, analiza DNA (tylko w IPN). 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).

38. 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

University Children's Hospital - University of Zurich The Division of Metabolism and Molecular Pediatrics Laboratory Diagnostic Tests 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 Disorders of Carbohydrate Metabolism Lysosomal Storage Diseases and Related Diseases Congenital Disorders of Glycosylation Other Genetic Metabolic Diseases ... Skeletal Dysplasias and Craniosynostosis Syndromes Disorders of Carbohydrate Metabolism Galactose Metabolism: Metabolites galactose (determination in blood) galactose-1-phosphate (determination in red blood cells) Epimerase deficiency UDP-galactose-4'-epimerase Galactokinase deficiency galactokinase Galactosemia galactose-1-phosphate uridyltransferase Glycogen Metabolism (Glycogen Storage Diseases, GSD):

39. 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

Letter from Duke University Pediatric Stem Cell Transplant Program to Senator Barbara Boxer June 28, 2002 Senator Barbara Boxer 112 Hart Senate Office Building Washington, DC 20510 Re: Hunter and Tommy Bennett Dear Senator Boxer: 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%.

40. 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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