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Category: Sanfilippo Syndrome HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Genetic Disorders/Sanfilippo Syndrome Links: Ben's Dream [rate it] [review it] Information about a foundation dedicated to increasing awareness of Sanfilippo Syndrome and raising funds to support research aimed at finding a cure. Includes a newsletter. Bennett Children's Foundation [rate it] [review it] 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. Children's Medical Research Foundation [rate it] [review it] A non-profit foundation formed to raise and grant funds for research to find a cure for Sanfilippo Syndrome. MPS III: Sanfilippo Syndrome [rate it] [review it] Information, including the causes, different forms, the inheritance and how the disorder progresses. NORD - Sanfilippo Syndrome [rate it] [review it] Offers a list of synonyms, a general discussion and further resources. Pediatric Database [rate it] [review it] Offers a definition, the epidemiology, pathogenesis, clinical features, investigation and management.

62. || DukeMedNews || Search Results sanfilippo syndrome. sanfilippo 4 / 4, syndrome 281 / 281. 11 of 1 results found, Order by Relevancy Date. Cord Blood Cells http://news.mc.duke.edu/search/search.php?q=sanfilippo syndrome

63. 2001-Fu-GENE THERAPY OF SANFILIPPO SYNDROME USING ADENO-ASSOCIATED VIRAL VECTORS GENE THERAPY OF sanfilippo syndrome USING ADENOASSOCIATED VIRAL VECTORS. No definite treatment is available for patients with sanfilippo syndrome. 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

64. 2001-Neufeld-MACROPHAGES IN THE MOUSE MODEL OF SANFILIPPO SYNDROME TYPE B MACROPHAGES IN THE MOUSE MODEL OF sanfilippo syndrome TYPE B. Elizabeth F. Neufeld 1 , Kazuhiro Ohmi 1 , Nora Rozengurt 2 and Sergey Ryazantsev 1 . http://www.biolchem.ucla.edu/mps/01therapy/abstracts/NeufeldE.htm

MACROPHAGES IN THE MOUSE MODEL OF SANFILIPPO SYNDROME TYPE B. Elizabeth F. Neufeld , Kazuhiro Ohmi , Nora Rozengurt and Sergey Ryazantsev Department of Biological Chemistry and eneufeld@mednet.ucla.edu The Sanfilippo syndrome type B (MPS III B) is a neurodegenerative disease of children, caused by mutations in the gene encoding Naglu -/-, displays lysosomal pathology in many types of cells, including macrophages, epithelial cells and neurons. Earlier work had shown that Kupffer cells were much more prominently involved than hepatocytes, and that enzyme targeted to the mannose receptor of macrophages depleted the liver of its glycosaminoglycan accumulation and restored essentially normal morphology (Yu et al, Mol Genet Metab 71: 573-580, 2000). Macrophage-like cells in brain (microglia) are readily seen by both light and electron microscopy in the brain of affected mice because of their distended and nearly empty vacuoles characteristic of lysosomal storage of glycosaminoglycans. The microglia are often in direct contact with neurons. Frozen or vibratome sections of brain were immuno-stained with MOMA2, a marker of activated microglia. No MOMA-2 positive cells were seen in brain of 2-week-old Naglu -/- mice, but appeared at I month and became progressively more numerous with age. MOMA-2 positive cells stained intensely with antibodies against the lysosomal membrane proteins LAMP-1 and LAMP-2, confirming the increase in lysosomal storage in microglia. The MOMA-2 positive cells also stained with antibodies against gangliosides GM2 and GM3. Since these gangliosides are normal components of neuronal plasma membranes, they may accumulate in microglia that are ingesting damaged neurons. Microglial storage may account for the elevated level of GM2 and GM3 gangliosides that occurs in brain of

65. Welcome To AJC! sanfilippo syndrome. This substance is called heparan sulfate, and in sanfilippo syndrome, large amounts of it are excreted in the urine. Causes and Risks. http://www.ajc.com/search/healthfd/shared/health/adam/ency/article/001210.html

Main Contact us Edit profile Subscribe ... Register Now It's Free! Log in E-mail preferences Site Index Search: Site Yellow Pages Customer care ajc.com Nation/World Metro ... Personals ajc services Archives Advertise online Advertise in print Obituaries ... Sitemap Print edition Today This week A1 image E-mail News  Sign up for our  FREE newsletters: News Sports Business Travel Deals ... Logged in? ajc store Gifts Photos/pages Browser tip  Make ajc.com  your homepage: ajc guides Schools Visitors Illustrated Health Encyclopedia Important notice Ency. home Disease S Sanfilippo syndrome Overview Symptoms Treatment Prevention Alternative names: Mucopolysaccharidosis type III (subtypes A - B - C-D); Type IIIA = heparan sulfate sulfatase deficiency; Type IIIB = N-acetylglucosaminidase deficiency; Type IIID = N-acetylglucosamine-6-sulfate sulfatase deficiency Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, and it is characterized by the absence of one of several enzymes . These enzymes help the body get rid of a substance normally found outside of our cells called a mucopolysaccharide. This substance is called heparan sulfate, and in Sanfilippo syndrome, large amounts of it are excreted in the urine. Causes and Risks Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. Sanfilippo syndrome has a relatively late onset rather than during the first year of life.

66. Untitled MPS type IIIA (IDUA); sanfilippo syndrome type A. MPS type IIIB (NAGLU); sanfilippo syndrome type B. MPS type IIIC (GNAT); sanfilippo syndrome type C. http://www.peds.umn.edu/Centers/gene/mutation/

Clicking on the name of the condition links to the corresponding description at the Online Mendelian Inheritance in Man ( OMIM ) site. Mutations for each gene for MPS are being tabulated to describe the global experience. In each case, clicking on the HUGO abbreviation (denoted in parentheses) links to a Mutation Database for that gene. In many cases, such mutation can be "correlated" with various phenotypes (i.e., "genotype-phenotype correlation") with the hobe that the cummulative experience will provide predictive information (i.e., "prognosis") as well as assist in the interpretation of experimental clinical trials. Those who use this information are encouraged to check its validity and to notify the Curator of any errors or new information. MPS type I (IDUA); Hurler, Scheie, and Hurler-Scheie, syndromes MPS type II (IDS); Hunter syndrome MPS type IIIA (IDUA); Sanfilippo syndrome type A MPS type IIIB (NAGLU); Sanfilippo syndrome type B NAGLU mutations MPS IIIB genotype-phenotype correlations MPS type IIIC (GNAT); Sanfilippo syndrome type C MPS type IIID (G6S);

67. Sanfilippo Syndrome sanfilippo syndrome. Definition This substance is called heparan sulfate, and in sanfilippo syndrome, large amounts of it are excreted in the urine. http://www.valleybaptist.net/ency/article/001210.htm

Disease Injury Nutrition Poison ... Prevention Sanfilippo syndrome Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, and it is characterized by the absence of one of several enzymes . These enzymes help the body get rid of a substance normally found outside of our cells called a mucopolysaccharide. This substance is called heparan sulfate, and in Sanfilippo syndrome, large amounts of it are excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C-D); Type IIIA = heparan sulfate sulfatase deficiency; Type IIIB = N-acetylglucosaminidase deficiency; Type IIID = N-acetylglucosamine-6-sulfate sulfatase deficiency Causes, incidence, and risk factors: Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. Sanfilippo syndrome has a relatively late onset rather than during the first year of life. It shares, in common with most of the mucopolysaccharide storage diseases, coarse facial features, decreased mental development that progresses to severe mental retardation , stiff joints, gait disturbances, speech disturbances , and behavioral problems.

68. Kathy Smith, The Mother Of Two Boys With Sanfilippo Syndrome, Says She Is Ex­ha Kathy Smith, the mother of two boys with sanfilippo syndrome, says she is ex­hausted, but grateful for the outpouring of generosity toward her family. http://newstranscript.gmnews.com/News/2003/1112/Front_Page/001.html

Farmingdale, NJ News Front Page Bulletin Board Letters Editorials ... Business Featured Special Section GMN Community Guide Other Special Sections About Us Archive All Greater Media News Contact us Advertising Classifieds Services News Archive GMN Newspaper web site content management software and services Front Page November 12, 2003 Kathy Smith, the mother of two boys with Sanfilippo syndrome, says she is ex­hausted, but grateful for the outpouring of generosity toward her family. VERONICA YANKOWSKI staff Kathy Smith was moved by the outpouring of support she received from the community after the News Transcript published a story about her sons Sean (l), 7, and Robert, 8, who both have Sanfilippo syndrome. More than 300 people attended a bene­fit held on Sept. 28 at Leggett’s Sand Bar, Manasquan, the beach town where Kathy grew up. John Paglia, the owner of the tavern, donated the space, along with food, drinks and music. Each participant spent $30 for a buffet and two drinks, knowing that the money would go to a fund set up in the names of Smith’s sons, Sean and Robert. A story about Smith’s boys was pub­lished in the Sept. 24 issue of the News Transcript. The family lives in Freehold Township.

69. Sanfilippo Syndrome sanfilippo syndrome Directory Guide to sanfilippo syndrome sites on the internet. sanfilippo syndrome. http://www.directory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Sanfil

Sanfilippo Syndrome Directory: Guide to Sanfilippo Syndrome sites on the internet. Search Engines: Google Yahoo MSN FindWhat ... City Guides Sanfilippo Syndrome Health Conditions and Diseases Genetic Disorders Sanfilippo Syndrome Websites Ben's Dream http://www.bensdream.org Information about a foundation dedicated to increasing awareness of Sanfilippo Syndrome and raising funds to support research aimed at finding a cure. Includes a newsletter. Pediatric Database http://www.icondata.com/health/pedbase/files/sanfilip.htm Offers a definition, the epidemiology, pathogenesis, clinical features, investigation and management. MPS III: Sanfilippo Syndrome http://www.mpssociety.org/mps3.html Information, including the causes, different forms, the inheritance and how the disorder progresses. Children's Medical Research Foundation http://www.curekirby.org A non-profit foundation formed to raise and grant funds for research to find a cure for Sanfilippo Syndrome. Bennett Children's Foundation http://www.helpachild.net 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.

70. Sanfilippo Syndrome From Linkspider UK Health Directory sanfilippo syndrome by Linkspider UK, sanfilippo syndrome links and sanfilippo syndrome topics from our Health directory. Helping http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Sanfilippo

Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates Directory Topic Sanfilippo Syndrome assoicated to Health Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Sanfilippo Syndrome ( See Also: Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders Ben's Dream - Information about a foundation dedicated to increasing awareness of Sanfilippo Syndrome and raising funds to support research aimed at finding a cure. Includes a newsletter.

71. Wauu.DE: Health: Conditions And Diseases: Genetic Disorders: Sanfilippo Syndrome Wauu.DE Health Conditions and Diseases Genetic Disorders sanfilippo syndrome. http://www.wauu.de/Health/Conditions_and_Diseases/Genetic_Disorders/Sanfilippo_S

Home Health Conditions and Diseases Genetic Disorders : Sanfilippo Syndrome Search DMOZ-Verzeichnis: All Categories Categories Onlye Links: Ben's Dream Information about a foundation dedicated to increasing awareness of Sanfilippo Syndrome and raising funds to support research aimed at finding a cure. Includes a newsletter. http://www.bensdream.org MPS III: Sanfilippo Syndrome Information, including the causes, different forms, the inheritance and how the disorder progresses. http://www.mpssociety.org/mps3.html NORD - Sanfilippo Syndrome Offers a list of synonyms, a general discussion and further resources. Pediatric Database Offers a definition, the epidemiology, pathogenesis, clinical features, investigation and management. http://www.icondata.com/health/pedbase/files/SANFILIP.HTM © 1998- 2002 Ein Service von Wauu.de UserNet.DE Linktip: MnogoSearch.ORG Map TopTen TopTen eng Aktuelle Linktips Mozilla 1.7 RC 1 Basteln 0190 Warner Free Rund ums Rad ... Fantasy - Shop Webmaster-Links Webspace Free Subdomain Service Merchandise Fun SUMA - Forum ... Abmahnungen œber Wauu Regeln Webmasterservice Impressum b

72. Sanfilippo Syndrome sanfilippo syndrome. Definition In sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. http://www.shands.org/health/information/article/001210.htm

Disease Injury Nutrition Poison ... Z Sanfilippo syndrome Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Causes, incidence, and risk factors: Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life. As with most of the mucopolysaccharide storage diseases, affected individuals have coarse facial features, decreased mental development that progresses to severe

73. UMB 563 CASE IDENTIFICATION CODE. UMB 563. DISORDER Mucopolysaccharidosis, sanfilippo syndrome AGE 11 year(s) 98 day(s) SEX Female RACE Caucasian POST MORTEM INTERVAL http://medschool.umaryland.edu/BTBank/UMB_0563.htm

UNIVERSITY OF MARYLAND BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS email: btbumab@umaryland.edu phone: 1-800-847-1539 CASE IDENTIFICATION CODE UMB#563 DISORDER: Mucopolysaccharidosis, Sanfilippo Syndrome AGE: 11 year(s) 98 day(s) SEX: Female RACE: Caucasian POST MORTEM INTERVAL: 12 hour(s) CAUSE OF DEATH: Mucopolysaccharidosis, Complications KARYOTYPE AVAILABLE? No FINDINGS: HIV STATUS: (no test results) HBSAG STATUS: (no test results) LENGTH OF TIME IN STORAGE AS OF MARCH 2004: 2881 days AVAILABLE TISSUE ....FIXED.... BRAIN (Protocol Method 1) CEREBRUM- Hemi Coronal Section(2, 3, 6, 7, 10, 11), MEDULLA- Whole Section (2, 4), BRAIN STEM- Section(2, 3) OTHER ORGAN SYSTEMS SPINAL CORD- (Cervical, Lumbar, Peripheral Nerve, Thoracic, Sacral) ....FROZEN.... BRAIN (Protocol Method 1) CEREBRUM- Hemi Coronal Section(1, 4, 5, 8, 9, 12, 13, 16), MEDULLA- Whole Section (1, 3), BRAIN STEM- Section(1, 4) OTHER ORGAN SYSTEMS GASTROINTESTINAL- (Liver, Pancreas), HEMATOPOIETIC- (Spleen), MUSCULO SKELETAL- (Psoas), RESPIRATORY- (Lung), URINARY- (Kidney)

74. Ingenta: Article Summary -- Secondary Skeletal Involvement In Sanfilippo Syndrom Secondary skeletal involvement in sanfilippo syndrome QJM An International Journal of Medicine April 2004, vol. 97, no. 4, pp. http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://oup/

75. Disease - Sanfilippo Syndrome, North Carolina Disease sanfilippo syndrome, Online Medical Encyclopedia courtesy of University Health Systems of Eastern Carolina serving 29 counties in eastern North http://www.uhseast.com/11661.cfm

Back Email Us Search Centers of Excellence ... Disease Management Disease - Sanfilippo syndrome Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Causes And Risk: Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life. As with most of the mucopolysaccharide storage diseases, affected individuals have coarse facial features, decreased mental development that progresses to severe

76. Resource Library Find Information On Sanfilippo Syndrome At Find information on sanfilippo syndrome at MerckSource. Learn more about sanfilippo syndrome. Definition sanfilippo syndrome is http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

77. Sanfilippo Syndrome sanfilippo syndrome. Definition In sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. http://www.drkoop.com/ency/article/001210.htm

Advertisement Search Dr. Koop Web MEDLINE Special Offers TV Specials Top Features Schizophrenia Hair Loss Liver Disease Allergies ... Impotence Resources Subscribe to our Free Newsletter Health Encyclopedia ... Privacy Policy Advertisement Advertisement Disease Injury Nutrition Poison ... Prevention Sanfilippo syndrome Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Causes, incidence, and risk factors:

78. Mioti: Diseases + Conditions Diseases + Conditions sanfilippo syndrome. Search Mioti MEDLINEplus sanfilippo syndrome. MEDLINEplus, a goldmine of good health http://www.mioti.com/cat/condition/condition.asp?Cat=SanfilippoSyndrome

79. ZapMeta Directory > Health > Conditions And Diseases > Genetic Disorders > Sanfi Web Sites in Category sanfilippo syndrome Display results 1 6 of 6 matches. •. Ben s Dream open this site in a new window Past Versions http://www.zapmeta.com/search/meta/db.pl?dir=591642

80. Sanfilippo Syndrome sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes. http://www.pennhealth.com/ency/article/001210.htm

Search Encyclopedia: List of Topics Print This Page  Endocrinology Sanfilippo syndrome Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Causes, incidence, and risk factors: Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life. As with most of the mucopolysaccharide storage diseases, affected individuals have coarse facial features, decreased mental development that progresses to severe

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