81. Qango : Health: Diseases And Conditions: S: Sanfilippo Syndrome sanfilippo syndrome, all of Qango only this category, Options Help Home Health Diseases and Conditions S sanfilippo syndrome, Suggest a Site http://www.qango.com/dir/Health/Diseases_and_Conditions/S/Sanfilippo_Syndrome/

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82. Mucopolysaccharidoses Fact Sheet: National Institute Of Neurological Disorders A There are four distinct types of sanfilippo syndrome, each caused by The incidence of sanfilippo syndrome (for all four types combined) is about one in http://accessible.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolys

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section Funding ... Jobs and Training You are here: Home Disorders Mucopolysaccharidoses Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. More about Mucopolysaccharidoses Studies with patients Research literature Press releases NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page Mucopolysaccharidoses Fact Sheet Get Web page suited for printing Email this to a friend or colleague Request free mailed brochure Table of Contents (click to jump to sections) What are the mucopolysaccharidoses? Who is at risk? What are the signs and symptoms? What are the different types of the mucopolysaccharidoses? ... Where can I get more information? What are the mucopolysaccharidoses? The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin, and connective tissue. Glycosaminoglycans (formerly called mucopolysaccharides) are also found in the fluid that lubricates our joints.

83. The Molecular Basis Of Sanfilippo Syndrome Type B -- Zhao Et Al. 93 (12): 6101 - The sanfilippo syndrome type B is a lysosomal storage disorder caused by A mouse model for mucopolysaccharidosistype III A (sanfilippo syndrome) http://www.pnas.org/cgi/content/abstract/93/12/6101

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Zhao, H. G. Articles by Neufeld, E. F. Vol. 93, Issue 12, 6101-6105, June 11, 1996 Medical Sciences The molecular basis of Sanfilippo syndrome type B N -acetylglucosaminidase mucopolysaccharidosis III B lysosomal storage disease Hong G. Zhao Hong Hua Li Gideon Bach Artur Schmidtchen , and Elizabeth F. Neufeld Department of Biological Chemistry, Brain Research Institute and Molecular Biology Institute, University of California at Los Angeles, Los Angeles, CA 90095-1737; and Department of Human Genetics, Hadassah Medical Center, Jerusalem, Israel Contributed by Elizabeth F. Neufeld, February 16, 1996 The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of N -acetylglucosaminidase; it is characterized

84. Sanfilippo Syndrome: Profound Deficiency Of Alpha-Acetylglucosaminidase Activity Cultured skin fibroblasts from two patients with sanfilippo syndrome, Type B were strikingly deficient in alpha acetylglucosaminidase activity ( alpha http://www.pnas.org/cgi/content/abstract/69/7/1720

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Download to citation manager PubMed PubMed Citation Articles by O'Brien, J. S. July 1, 1972 Sanfilippo Syndrome: Profound Deficiency of Alpha-Acetylglucosaminidase Activity in Organs and Skin Fibroblasts from Type-B Patients John S. O'Brien Cultured skin fibroblasts from two patients with Sanfilippo syndrome, Type B were strikingly deficient in -acetylglucosaminidase activity ( -2-acetamido-2-deoxy-D-glucoside acetamidodeoxyglucohydrolase, EC 3.2.1.X). A similar deficiency was found in frozen organs from two other patients. A partial deficiency of -acetylglucosaminidase was found in cultured skin fibroblasts from both parents of one patient. Soluble endogenous inhibitors did not account for the enzyme deficiency. Other lysosomal hydrolases were normal or increased in cultured fibroblasts from patients with this disease. No deficiency of -acetylglucosaminidase is present in other genetic mucopolysaccharidoses, including Sanfilippo Type A.

85. An Adult Japanese Sanfilippo A Patient With Novel Compound Heterozygous S347F An In reporting 73 patients with sanfilippo syndrome, van de Kamp et al found that Significant clinical heterogeneity has been known in sanfilippo syndrome http://jnnp.bmjjournals.com/cgi/content/full/73/6/777

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Miyazaki, T Articles by Yuasa, T Related Collections Other Neurology Genetics Journal of Neurology Neurosurgery and Psychiatry Journal of Neurology Neurosurgery and Psychiatry LETTER An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene T Miyazaki N Masuda M Waragai Y Motoyoshi K Kurokawa and T Yuasa Department of Neurology, National Shimoshizu Hospital, Chiba, Japan Department of Neurology, Department of Neurology, Kohnodai Hospital, National Centre of Neurology and Psychiatry, Chiba, Japan Correspondence to: Keywords: Sanfilippo A; novel mutations

86. MPS III sanfilippo.gif (174947 bytes) sanfilippo syndrome is also known as MPS III. It is important to understand that all those with sanfilippo syndrome have http://www.mpssociety.org.au/MPS Diseases/mps_iii.htm

Home MPS Society MPS Diseases Contact Us ... 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.

87. Entrez PubMed A model of mucopolysaccharidosis IIIB (sanfilippo syndrome type IIIB) Nacetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. Ellinwood NM, Wang P, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

88. Entrez PubMed A study of 73 patients with the sanfilippo syndrome (36 patients with Sanfilippo A disease, 23 with Sanfilippo B disease and 14 with Sanfilippo C disease) http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

89. Arch Neurol -- Abstract: Neuroanatomical And Electroencephalographic Correlation Neuroanatomical and electroencephalographic correlations in sanfilippo syndrome, type A. RL Kriel, WA Hauser, JH Sung and Z. Posalaky http://archneur.ama-assn.org/cgi/content/abstract/35/12/838

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 35 No. 12, December 1978 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Kriel RL Posalaky Z Contact me when this article is cited Neuroanatomical and electroencephalographic correlations in Sanfilippo syndrome, type A R. L. Kriel, W. A. Hauser, J. H. Sung and Z. Posalaky Waking and all-night-sleeping electroencephalographic recordings were obtained on a boy with Sanfilippo disease, type A. The most striking abnormalities were noted during sleep and included (1) lack of progression through normal sleep stages, (2) absence of vertex waves and normal sleep spindles, (3) inability to stage sleep by the usual criteria, and (4) an

90. UCLA Portal Vanier, MT, Neufeld, EF Mouse model of sanfilippo syndrome type B producedby targeted disruption of the gene encoding alphaN-acetylglucosaminidase.. Proc. http://dgsom.healthsciences.ucla.edu/institution/personnel?personnel_id=45290

91. Human Genetics - NHLS - WITS sanfilippo syndrome results from an inherited inability to degrade heparan sulphate sanfilippo syndrome can be caused by a deficiency of any one of four http://www.health.wits.ac.za/gen/genet_disorders_linsks-z.htm

Sanfilippo syndrome Sanfilippo syndrome results from an inherited inability to degrade heparan sulphate, a complex carbohydrate that forms part of connective tissue. The disease has an autosomal recessive mode of inheritance. Physical abnormalities associated with this condition are less pronounced than those observed with other mucopolysaccharidoses, but the mental retardation is usually more severe. Sanfilippo syndrome can be caused by a deficiency of any one of four distinct lysosomal enzymes. The urine from affected individuals contains increased levels of partly-degraded heparan sulphate which, when observed, suggests the diagnosis. A definitive diagnosis requires the demonstration of a deficiency of one of the four enzymes involved in heparan sulphate degradation. At present, our laboratory can only assay one of the four enzymes viz. that which is deficient in Sanfilippo type B. Sample required: Approximately 30ml of freshly-collected urine and 13ml of whole blood (i.e. 6.5ml drawn into two yellow-capped vacutainer tubes, containing ACD anticoagulant), to reach the laboratory within 24 hours of collection. Time required for results to be ready: Approximately one week Contact telephone number: Scoline apnoea Scoline apnoea refers to the prolonged period taken by a patient to regain the ability to breath after being given a standard dose of the muscle relaxant, scoline, during surgery. The propensity to have the condition is inherited in an autosomal recessive manner. Scoline apnoea is more common in Caucasians because of the increased frequency of the so-called atypical variant of the gene in this group. Individuals at risk, as well as carriers of Scoline apnoea, can be identified by assaying and characterising (dibucane and fluoride numbers) the butyryl cholinesterase present in their serum. Individuals at risk are advised to wear a bracelet with a message alerting health care workers to the danger of administering scoline.

92. Mucopolysaccharidosis Type III MPSIII (sanfilippo syndrome) is one of seven MPS Disorders. It is an inborn error of metabolism that is transmitted as an autosomal recessive genetic http://www.bchealthguide.org/kbase/nord/nord290.htm

var hwPrint=1;var hwDocHWID="nord290";var hwDocTitle="Mucopolysaccharidosis Type III";var hwRank="1";var hwSectionHWID="nord290-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Mucopolysaccharidosis Type III Important It is possible that the main title of the report Mucopolysaccharidosis Type III 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 mucopolysaccharide storage disease type III oligophrenic polydystrophy polydystrophia oligophrenia Disorder Subdivisions Sanfilippo disease (types A, B, C, and D) Sanfilippo syndrome (types A, B, C, and D) General Discussion The 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. High concentrations of mucopolysaccharides in the cells of the central nervous system, including the brain, cause the neurological and developmental deficits that accompany these disorders. MPS-III (Sanfilippo Syndrome) is one of seven MPS Disorders. It is an inborn error of metabolism that is transmitted as an autosomal recessive genetic disorder. MPS-lll has been subdivided into four types: MPS-III Type A, MPS-III Type B, MPS-III Type C, and MPS-III Type D. All types are associated with some degree of mental deterioration, but the severity depends on the particular type of MPS-lll. Several physical defects may be present, and the severity of these defects varies with the type of MPS-III. In the case of each type of MPS-III, abnormal amounts of a specific, chemically complex molecule is excreted in the urine. The excreted chemical is the same for each of the four types of MPS-III, since the defective gene involves a different step, and thus a different enzyme, in the deconstruction of the same mucopolysaccharide. By testing for one or another of these enzymes, the variant type may be readily identified.

93. Sanfilippo S Syndrome Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/SANFILIPPOS SY

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Sanfilippo's syndrome, (Sylvester J. Sanfilippo, 20th century, American paediatrician), a group of diseases (types A, B, C and D) that constitute type III mucopolysaccharidosis . In all of these disorders a deficiency of lysosomal enzymes involved in the degradation of heparan sulfate is present. Among the features of this syndrome are limitation of joint motion, hepatosplenomegaly and a mild gibbus deformity DR The Encyclopaedia of Medical Imaging Volume III 1 Corporate Products Financial Services Our Commitment ... Terms of Conditions

94. Arch Ophthalmol -- Abstract: Ocular Histopathology And Ultrastructure Of Sanfili Ocular histopathology and ultrastructure of sanfilippo s syndrome, type IIIB. MA Lavery, WR Green, EW Jabs, MW Luckenbach and JL Cox http://archopht.ama-assn.org/cgi/content/abstract/101/8/1263

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 101 No. 8, August 1983 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Lavery MA Cox JL Contact me when this article is cited Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B M. A. Lavery, W. R. Green, E. W. Jabs, M. W. Luckenbach and J. L. Cox The ocular histopathology of systemic mucopolysaccharidosis, type III-B (Sanfilippo's syndrome) was studied using histochemical and ultrastructural techniques. Cytoplasmic, single-membrane-bound vacuoles containing the major storage product, acid mucopolysaccharide, were found in virtually every ocular tissue. Lamellar cytoplasmic membranous bodies of complex

95. Arch Ophthalmol -- Abstract: Histopathology Of Sanfilippo's Syndrome, August 198 Histopathology of sanfilippo s syndrome. MA Del Monte, IH Maumenee, WR Green and KR Kenyon. A 19year-old woman with sanfilippo s syndrome had poor vision, http://archopht.ama-assn.org/cgi/content/abstract/101/8/1255

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 101 No. 8, August 1983 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Del Monte MA Kenyon KR Contact me when this article is cited Histopathology of Sanfilippo's syndrome M. A. Del Monte, I. H. Maumenee, W. R. Green and K. R. Kenyon A 19-year-old woman with Sanfilippo's syndrome had poor vision, a flat electroretinographic pattern, and fundus changes similar to those in retinitis pigmentosa. Histology of her eyes by phase-contrast and electron microscopy showed extensive intracellular accumulation of fibrillogranular and membranous lamellar vacuoles in cornea, trabecular meshwork, iris, lens, ciliary body, and sclera. Retinal ganglion cells, retinal pigment

96. Sanfilippo's Syndrome --  Encyclopædia Britannica sanfilippo s syndrome rare hereditary (autosomal recessive) metabolic disease characterized by severe mental retardation. There are three varieties, http://www.britannica.com/eb/article-9065497

Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents Sanfilippo's syndrome Print this Table of Contents Shopping Price: USD $1495 Revised, updated, and still unrivaled. The Official Scrabble Players Dictionary (Hardcover) Price: USD $15.95 The Scrabble player's bible on sale! Save 30%. Merriam-Webster's Collegiate Dictionary Price: USD $19.95 Save big on America's best-selling dictionary. Discounted 38%! More Britannica products Sanfilippo's syndrome  Encyclopædia Britannica Article Page 1 of 1 also called Mucopolysaccharidosis Iii, Sanfilippo's syndrome... (75 of 101 words) var mm = [["Jan.","January"],["Feb.","February"],["Mar.","March"],["Apr.","April"],["May","May"],["June","June"],["July","July"],["Aug.","August"],["Sept.","September"],["Oct.","October"],["Nov.","November"],["Dec.","December"]]; To cite this page: MLA style: "Sanfilippo's syndrome."

97. Login The syndrome gets its name from Dr. Sylvester sanfilippo, one of the US doctors in the United States who defined the condition in 1963. http://www1.venturacountystar.com/vcs/lifestyle/article/0,1375,VCS_230_3915939,0

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98. Health/Conditions And Diseases/Genetic Disorders/Sanfilippo Syndrome -- The Doct Ask the doctor. Get free medical consultation and advice. Choose a medical specialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... Bennett Children's Foundation 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: www.claritystudio.com/helpachild/ 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. url: www.bensdream.org Children's Medical Research Foundation Funds medical research to find a cure for Sanfilippo Syndrome and other neuro-genetic disorders. News and links to summaries of research that has been supported by the foundation. url: www.curekirby.org/

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