61. Mucopolysaccharidosis III (MPS III) Disease (Sanfilippo Syndrome) A guide to understanding sanfilippo syndrome. The National MPS Society, Inc.; 2000. 4. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_mps3.asp

var factSheetURL = document.location; We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. Genzyme Corporate Search Contact Us Genzyme Websites Lyso Learning All Genzyme sites About Lysosomal Storage Disorders Disease Classification Disease Management var pageTitle="Mucopolysaccharidosis III (MPS III) Disease (Sanfilippo Syndrome)"; var teaserText = "Enzyme deficiency results in progressive accumulation of the glycosaminoglycans (gags) dermatan sulfate and heparan sulfate."; Mucopolysaccharidosis III (MPS III) Disease (Sanfilippo Syndrome) Metabolic defect: Type A - heparan N-sulfatase (sulfamidase) deficiency; Type B - alpha-N-acetyl-glucosaminidase deficiency; Type C - acetyl-coa: alpha glucosaminide acetyltransferase deficiency; Type D - galactose 6-sulfatase (N-acetyl-glucosamine 6-sulfatase) deficiency Other glycosaminoglycans metabolism diseases (mucopolysaccharidoses): MPS I MPS II MPS IV MPS VI ... MPS VII Current page: MPS III Select Another Disease Select disease Acid sphingomyel. def.

62. Journal Of The American Academy Of Child & Adolescent Psychiatry - UserLogin We would like to report a case of sanfilippo syndrome, Besides sanfilippo syndrome, the patient s past medical history was significant for having been http://www.jaacap.com/pt/re/jaacap/fulltext.00004583-199608000-00007.htm

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63. Cloning Of The Sulphamidase Gene And Identification Of Mutations In Sanfilippo A Sanfilippo A syndrome is one of four recognised Sanfilippo sub-types (A, B, The incidence of sanfilippo syndrome has been estimated at 124000 in The http://www.nature.com/ng/journal/v11/n4/abs/ng1295-465.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/ng1295-465 Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome Hamish S. Scott , Lianne Blanch , Xiao-Hui Guo , Craig Freeman , Annette Orsborn , Elizabeth Baker , Grant R. Sutherland , C. Phillip Morris Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide S.A. 5006, Australia. Division of Cell Biology, John Curtin School of Medical Research, The Australian National University, Canberra ACT, 2601, Australia Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide S.A. 5006, Australia. Correspondence should be addressed to J.J.H. Sanfilippo A syndrome is one of four recognised San-filippo sub-types (A, B, C and D) that result from deficiencies of different enzymes involved in the lysosomal degradation of heparan sulphate; patients suffer from severe neurological disorders. The Sanfilippo syndrome sub-types are also known as mucopolysaccharidosis (MRS) type III (MPS-IIIA, B, C and D), and are part of the large group of lysosomal storage disorders. Each of the MPS-III types is inherited as an autosomal recessive disorder with considerable variation in severity of clinical phenotype

64. UNMC Today Headlines - Omaha-based Foundation Presents Research Award To UNMC Ph Julia Dopheide of Omaha has sanfilippo syndrome Type A. A fundraiser for Julia s Hope The sanfilippo syndrome Medical Research Foundation Inc., http://app1.unmc.edu/publicaffairs/todaysite/sitefiles/today_full.cfm?match=1379

65. TheOmahaChannel.com - Julies Diary - Julie's Diary: Julia's Hope It s called sanfilippo syndrome, Type A. Children with the syndrome lack an enzyme that helps break down a substance in the brain. http://www.theomahachannel.com/juliesdiary/2754573/detail.html

Sign up for E-News Contact KETV 7 Get RSS Search House and Home Real Estate Dating Auto ... Julies Diary Email This Story Print This Story Julie's Diary: Julia's Hope January 9, 2004 He wore a lovely pink bandage on his finger. You'd laugh or make some kind of joke if you saw it...but if you met the rest of his family, you'd understand. Andy Dopheide is the father of three little girls. And I have a feeling those precious sweethearts coaxed him into wearing that pretty band-aid. Then, Andy had the guts to wear it to church on Sunday. I saw it myself, and gave him a hard time about it! Andy and Becca Dopheide would do anything for their girls. In fact, they've taken-on a monumental task. Their middle daughter, Julia (pictured, left), was diagnosed with a rare genetic disorder when she was 3-years-old. It's called Sanfilippo Syndrome, Type A. Children with the syndrome lack an enzyme that helps break down a substance in the brain. As the substance accumulates in the cells, a normal child loses the ability to talk, eat, and sleep. Deterioration continues, giving way to mental retardation, dementia, and death. A child with this disorder will die between the ages of 10 and 15. There is no treatment, and no cure. About one in every 25,000 children are born with the syndrome. Almost as disturbing as the diagnosis, was the news that very little research was being done on this disorder.

66. Tufts E-News -- The Forgotten Patients In the case of sanfilippo syndrome, many patients aren t diagnosed until the Those with sanfilippo syndrome have an average life expectancy of 10 to 15 http://enews.tufts.edu/stories/071502ForgottenPatients.htm

PRINT THIS ARTICLE SUBMIT YOUR COMMENTS The Forgotten Patients Though 1 in 25,000 newborns is diagnosed with Sanfilippo syndrome, a Tufts expert says the patients are often overlooked. Boston [07.15.02] Each year, one in 25,000 children are born with Sanfilippo syndromea rare condition that prevents the babies' bodies from processing sugars. Without any way to break the sugars down, or stop them from building up in the body, the sugars become a slow-acting poison. While hundreds of newborns are born with Sanfilippo every year, a Tufts expert says most go untreated because most doctors don't know how to recognize the deadly condition. "Doctors in general are very poorly trained in these metabolic disorders," Dr. Mark Korson - a specialist in pediatric metabolic disorders at the Floating Hospital for Children at the Tufts' New England Medical Center - told the Cape Cod Times . "It's not in their minds. It's a fault of our whole system."

67. 071502ForgottenPatients Tufts ENews The Forgotten Patients Though 1 in 15000 newborns is diagnosed with sanfilippo syndrome, a Tufts expert says the patients are often http://enews.tufts.edu/printerversion/071502ForgottenPatients.htm

The Forgotten Patients Though 1 in 25,000 newborns is diagnosed with Sanfilippo syndrome, a Tufts expert says the patients are often overlooked. Boston [07.15.02] Each year, one in 25,000 children are born with Sanfilippo syndromea rare condition that prevents the babies' bodies from processing sugars. Without any way to break the sugars down, or stop them from building up in the body, the sugars become a slow-acting poison. While hundreds of newborns are born with Sanfilippo every year, a Tufts expert says most go untreated because most doctors don't know how to recognize the deadly condition. "Doctors in general are very poorly trained in these metabolic disorders," Dr. Mark Korson - a specialist in pediatric metabolic disorders at the Floating Hospital for Children at the Tufts' New England Medical Center - told the Cape Cod Times . "It's not in their minds. It's a fault of our whole system."

68. Kathy Smith, The Mother Of Two Boys With Sanfilippo Syndrome, Says She Is Ex­ha The boys, Robert, 8, and Sean, 7, both have sanfilippo syndrome, The life expectancy of a person with sanfilippo syndrome is 10 to 15 years. http://newstranscript.gmnews.com/News/2003/1112/Front_Page/001.html

Farmingdale, NJ Marketplace: Real Estate Automotive Classifieds Special Sections ... Media Kit News Front Page Bulletin Board Letters Editorials ... Business Featured Special Section About Us Archive All Greater Media News Contact us 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 - General Practice Notebook 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/cache/-1785069520.htm

Sanfilippo syndrome Sanfilippo syndrome is a lysosomal disease caused by defects in one of four enzymes involved in the degradation of heparan sulphate. The main clinical finding is of mild somatic involvement but severe neurological disease. Click here for more information...

70. Announcements Statement on sanfilippo syndrome research contribution to Duke University. Oakland, CA – Today, Kaiser Permanente announced a $1million research http://ckp.kp.org/newsroom/national/archive/nat_020904_sanfilippo.html

Skip primary menu News releases and spotlight stories In-depth focus News release archives ... In-depth focus archives News release: National September 4, 2002 For more information, call: Beverly Hayon Kaiser Permanente Phone: (510) 271-6437 E-mail: Beverly.Hayon@kp.org Statement on Sanfilippo Syndrome research contribution to Duke University Oakland, CA – Today, Kaiser Permanente announced a $1-million research contribution to Duke University to further its research into a cure for Sanfilippo Syndrome, a disease where there is no known cure and little information. John and Alicia Bennett of Ione, whose three children Ciara, Hunter and Tommy all suffer from Sanfilippo, have been seeking funds to help them pay the cost of an unproven and experimental treatment offered by Duke University. In a letter to the Bennett family, George Halvorson, Kaiser Permanente Chairman and CEO, noted his compassion and commitment to the best course of action to help the Bennett family, while proposing a possible resolution that balanced the family's needs and Kaiser Permanente's medical concerns. "As an organization made up of parents, grandparents, siblings and children, we know exactly how you feel. We realize and appreciate that the family's hope now rests beyond the realm of proven science and evidence-based medical judgment."

71. Sanfilippo Syndrome - SWMC Serving Vancouver Washington Portland Oregon sanfilippo syndrome Online Medical Encyclopedia courtesy of Southwest Washington Medical Center, a Top 100 Hosptital award winner locacted in Vancouver, http://www.swmedicalcenter.com/118843.cfm

@import url(default.css); Health Information Manager Back to Health Library Print This Page Email to a Friend 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

72. %252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC Mucopolysaccharidosis type IIIC, also known as sanfilippo syndrome C, sanfilippo syndrome, or mucopolysaccharidosis III, comprises several forms of http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:252930] -e

73. 252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA The sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage The sanfilippo syndrome is characterized by severe central nervous system http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:252900] -e

74. Lisa's Story Children with sanfilippo syndrome are missing an enzyme which cuts up used sanfilippo syndrome is very rare. It affects about one in 25000 births. http://www.jeansforgenes.com/2_about/2017_lisas_story.php

What is Jeans for Genes? About the Charities Why Support Us Personal Stories ... Site Map "Lisa was born two months prematurely. She was in the Intensive Baby Care Unit at the hospital for three weeks, but then she seemed fine and we took her home. To start with she reached all the milestones such as crawling, sitting up and walking, at a normal age. However, when she was a toddler she often had ear infections. When she was 18 months old, we took her to Australia to visit her grandparents and three hours into the flight her eardrum burst. Because Lisa had been premature, she had had regular appointments at our local hospital. After we returned from Australia, the senior paediatrician at our hospital said that, unless we had any worries, we wouldn't have to have any more appointments. I said that I was worried. As well as being concerned about her frequent ear infections, I thought that her head was a funny shape. Because of this she was sent to Great Ormond Street Hospital for tests. The doctors said that she had an incurable genetic condition called Sanfilippo syndrome. I was devastated because all along I had thought that they would find something which they could treat and cure. Instead I found out that Lisa would have progressive physical and mental disabilities and become more and more dependent on us.

75. Opera Directory MPS III sanfilippo syndrome. Information, including the causes, different forms, the inheritance NORD sanfilippo syndrome. Offers a list of synonyms, http://portal.opera.com/directory/?cat=591642

76. Sanfilippo Syndrome - Wikipedia, The Free Encyclopedia (Redirected from Sanfilippo s Syndrome). Sanfillipo syndrome is a lysosomal storage disorder resulting from a deficiency in the lysosomal enzyme http://en.wikipedia.org/wiki/Sanfilippo's_Syndrome

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Sanfilippo syndrome From Wikipedia, the free encyclopedia. (Redirected from Sanfilippo's Syndrome Sanfillipo syndrome is a lysosomal storage disorder resulting from a deficiency in the lysosomal enzyme heparan-N-sulfatase. The enzyme performs a crucial step in the breakdown of the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. Although undegraded heparan sulfate is the primary stored substrate, glycolipids such as gangliosides are also stored despite no genetic defect in the enzymes associated with their breakdown. MPS-III A has an incidence of approximately 1 in 115 000 live births. Higher rates are found in certain populations such as the Ashkenazi jews. It is a rare disease edit Natural History and Diagnosis It should be noted that MPS-III A, B, C and D are considered to be clinically indistinguishable, although mutations in different genes are responsible for each disease. The following discussion is therefore applicable to all four conditions. The disease manifests in young children. Affected infants are apparently normal, although some mild facial dysmorphism may be noticeable. The stiff joints, hirsuitism and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease. The child often develops normally initially. Acquisition of speech is often slow and incomplete. The disease then progresses to increasing behavioural disturbance including temper tantrums, hyperactivity, destructiveness, aggressive behaviour

77. Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LI The Sanfilippo A syndrome is an autosomal recessive Biochemical heterogeneity of the sanfilippo syndrome preliminary characterization of two deficient http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=301630

78. Sanfilippo Syndrome Type C: Deficiency Of Acetyl-CoA:alpha-glucosaminide N-acety In fibroblast homogenates from three patients with sanfilippo syndrome type C Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=336290

79. Mucopolysaccharidoses Fact Sheet: National Institute Of Neurological Disorders A MPS III, sanfilippo syndrome, is marked by severe neurological symptoms. There are four distinct types of sanfilippo syndrome, each caused by alteration http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysacchari

Accessible version 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 Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Mucopolysaccharidoses 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. People with a mucopolysaccharidosis either do not produce enough of one of the 11 enzymes required to break down these sugar chains into proteins and simpler molecules or they produce enzymes that do not work properly. Over time, these glycosaminoglycans collect in the cells, blood, and connective tissues. The result is permanent, progressive cellular damage that affects the individual's appearance, physical abilities, organ and system functioning, and, in most cases, mental development.

80. Resource Library Find Information On Sanfilippo Syndrome At Find information on sanfilippo syndrome at MerckSource. Learn more about sanfilippo syndrome, sanfilippo syndrome is one of the hereditary http://www.mercksource.com/pp/us/cns/cns_hc_children_content_adam.jspzQzpgzEzzSz

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