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41. Radiology, University Of Rochester Medical Center
Clinical Presentation A 6year-old female with sanfilippo syndrome has been In sanfilippo syndrome this defect results in an accumulation of heparan
http://www.urmc.rochester.edu/smd/Rad/neurocases/Neurocase107.htm

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Ruusu Ketonen, Leena Ketonen, MD, PhD, Ravinder Sidhu MD,
and Sudhir Kathuria, MD Clinical Presentation: A 6-year-old female with Sanfilippo syndrome has been stable and interacting until 5 months ago, when she experienced rapid deterioration. Radiological Findings: Sagittal T1WI images demonstrated an omega-shaped sella with a thin corpus callosum, and thick diploic space of skull vault ( Fig. 1 ). Axial T2WI images showed diffuse volume loss which is more marked in occipital lobes ( Fig. 2 Figure 1: Sagittal T1-weighted image shows omega shaped sella (black arrow), a thin corpus callosum (white arrowhead) and a prominent crista galli. Note also the thick diploe in the skull bone.

42. EP Features - A Story Of Grace Under Pressure - One Family’s Life With San
One Family’s Life with sanfilippo syndrome Together, the Begs have calmness in the face of the challenges sanfilippo syndrome has laid down for them.
http://www.eparent.com/magazine/features/grace_under_pressure.htm
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A Story of Grace under Pressure
One Family’s Life with Sanfilippo Syndrome
The Beg family at home: (l-r) Khansa, Zarrar, Abeerah, Balil, Tayyaba and Zahra. In her “spare time,” Tayyaba Beg makes special clothes for her daughters. Donations for the Beg family can be made Exceptional Parent Magazine 65 East Route 4 River Edge, NJ 07661 or to: Help Our Girls PO Box 521 Teaneck, NJ 07666-0521 The Begs may be reached by: phone: (201) 837-7861 web: http://www.helpourgirls.com e-mail: tayyaba@helpourgirls.com Resources The National MPS Society 207-990-3074 (fax) http://www.mpssociety.org Duke University Medical Center Bone Marrow and Stem Cell Transplant Program TEL: 919.668.1002

43. Sanfilippo Syndrome
sanfilippo syndrome takes its name from Dr. Sylvestor Sanfilippo, sanfilippo syndrome is a mucopolysaccharide disorder, also described as MPSIII,
http://www.alifeforelisa.org/Sanfilippo
The Sanfilippo Children's Research Foundation Sanfilippo Syndrome BACK Newsletters Email Us Donations HOME Sep 09, 2005 Sanfilippo Syndrome Research Related Links Sanfilippo Profiles What is Sanfilippo Syndrome?
Sanfilippo Syndrome takes its name from Dr. Sylvestor Sanfilippo, one of the doctors who first described the disease in 1963. Sanfilippo Syndrome is a mucopolysaccharide disorder, also described as MPS-III, and falls within a broader group of genetic disorders known as the Lysosomal Storage Disease. It is one of seven Mucopolysaccharide (MPS) disorders. MPS sufferers like Elisa are missing an essential enzyme that breaks down a complex body sugar called heparan sulfate. This sugar will slowly build up in the bones, the brain and other organs, stopping normal development.
What are the symptoms?
While development is normal in the first three or four years, sufferers lose the ability to speak at around the age of 7. By the age of 10 they are confined to a wheelchair, and then bedridden by the age of 14. This decline will be accompanied by hyperactivity, sleep disorders, mental regression and dementia, and will finally lead to an early death. Elisa, our beautiful, fragile rose, will wither and succumb in her youth.
What causes Sanfilippo Syndrome?

44. Research Related To Sanfilippo Syndrome
The Sanfilippo Children s Research Foundation Dr. Francis Choy. “Mucopolysaccharidosis Type IIIB (sanfilippo syndrome) Expression of human recombinant
http://www.alifeforelisa.org/Research
The Sanfilippo Children's Research Foundation Research Updates BACK Email Us Newsletters Sanfilippo Syndrome HOME Research Progress
At our gala last April, we were pleased to present videos profiling some of the positive progress that has been made in the quest to understand Sanfilippo. Many guests commented on how gratifying it was to see that the medical researchers are personally very moved by the challenge of Sanfiippo and highly motivated to vanquish it. The SCRF is very proud to say the 97% of money raised to date is committed for research. Only 3% is used to cover overhead costs!
Dr. Francis Choy, Ph.D., University of Victoria, British Columbia
Judy Bandsmer

Keep up the great work, Dr. Choy, Judy and your associates!
To date, the has committed over Scientific Advisory Board reviewed several more research proposals from scientists dedicated to finding a cure for Sanfilippo Syndrome. Unfortunately, there was more valuable research eagerly proposed than we had money to fund. However, we were pleased to be able to fund the following two new projects over the next two years at the following institutions:
Dr. John Hopwood

45. Sanfilippo Syndrome
In sanfilippo syndrome, onset is relatively late, rather than during the first year of life. Unlike Hurler syndrome, in people with sanfilippo syndrome,
http://www.lifespan.org/ADAM/English/HIE/001210.htm

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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
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

46. The Canadian Society For Mucopolysaccharide Related Diseases Inc.
1961, sanfilippo syndrome recognised as being a separate disease. Prior to this it had been considered as a form of Hurler Syndrome.
http://www.mpssociety.ca/history_of_diseases.php

47. Mucopolysaccharidosis / Family Village Library
Mucopolysaccharidosis Type III sanfilippo syndrome Holland s Hope Children s Medical Research Foundation - sanfilippo syndrome MPS I Website
http://www.familyvillage.wisc.edu/lib_muco.htm
Mucopolysaccharidosis
Type of MPS: Mucopolysaccharidosis; Mucolipidosis; Hunter Syndrome; Hurler Syndrome; Maroteaux-Lamy Syndrome; Morquio syndrome; Sanfilippo Syndrome; Scheie Syndrome
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The National MPS Society
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207-990-3074 (fax)
E-mail: info@mpssociety.org
Web: http://www.mpssociety.org/ The National MPS Society's goal is to ultimately find a cure for MPS and ML disorders. The National MPS Society will achieve this goal by supporting research, providing support to individuals and their families affected by an MPS or ML disease, promoting public and professional awareness, and significantly increasing participation by regions.
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48. Mucopolysaccharidoses
MPS III (sanfilippo syndrome). MPS III, like the other MPS conditions, was initially diagnosed by the individual having certain physical characteristics.
http://www.healthatoz.com/healthatoz/Atoz/ency/mucopolysaccharidoses.jsp

49. Sanfilippo Syndrome
sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, This substance is called heparan sulfate, and in sanfilippo syndrome,
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.

50. 2001-Fu-GENE THERAPY OF SANFILIPPO SYNDROME USING ADENO-ASSOCIATED VIRAL VECTORS
Mucopolysaccharidoses type III B (sanfilippo syndrome B, The sanfilippo syndrome is characterized by hyperactivity, mild somatic involvement,
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

51. 2001-Neufeld-MACROPHAGES IN THE MOUSE MODEL OF SANFILIPPO SYNDROME TYPE B
The sanfilippo syndrome type B (MPS III B) is a neurodegenerative disease of children, caused by mutations in the gene encoding aN-acetyl-glucosaminidase,
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

52. KXTV News10 TV -- Tommy Bennett Loses Battle With Sanfilippo Syndrome
Tommy Bennett Loses Battle with sanfilippo syndrome. Tommy Bennett, the fouryear-old boy from Ione who has been battling a metabolic disorder,
http://www.claritystudio.com/helpachild/bennett/publicity/tv/kxtv/11-26-03.htm
h e l p a c h i l d . n e t
Tommy Bennett Loses Battle with Sanfilippo Syndrome Tommy Bennett, the four-year-old boy from Ione who has been battling a metabolic disorder, died early Tuesday morning at Duke University Children's Center. Just a month ago, Tommy underwent a third stem cell transplant in an effort to fight Sanfilippo syndrome, a rare and almost invariably fatal genetic disorder in which the body lacks a key enzyme needed to break down sugar. As the incompletely metabolized sugar builds up in organ systems, the body begins to break down. Death usually results before age 20. Tommy Bennett was considered a good candidate for an experimental procedure, in which stems cells from umbilical cord blood are transplanted into the body of a Sanfilippo syndrome patient. Because stem cells have the unique ability to grow into virtually any other form of cells, they can transform in the cells that produce the missing enzyme. The results of the procedure were initially promising. Tommy Bennett's body began producing the enzyme-producing cells. However, earlier this month the boy's body began rejecting the transplanted cells. His lungs, liver and kidneys began to fail. He fell into a coma as his condition gradually deteriorated.

53. Medical Directory - Information About Sanfilippo Syndrome
Medical Directory Information about sanfilippo syndrome. About Us Privacy Policy FAQs Home Salmonella enterocolitis sanfilippo syndrome
http://www.sainetsympa.com/ListingMedicalDirectory-S-1197.htm
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... Disease . Sanfilippo syndrome Information about Sanfilippo syndrome
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) 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. 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 mental retardation

54. Sanfilippo Syndrome Type D: Identification Of The First Mutation In The N-acetyl
Keywords sanfilippo syndrome type D; mucopolysaccharidosis IIID; Nacetylglucosamine-6-sulphatase; mutation analysis
http://jmg.bmjjournals.com/cgi/content/abstract/40/3/192

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Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
C E Beesley D Burke M Jackson A Vellodi B G Winchester and E P Young Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
Chemical Pathology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK

55. Sanfilippo Syndrome Type D: Identification Of The First Mutation In The N-acetyl
sanfilippo syndrome type D or mucopolysaccharidosis type IIID (MPS IIID) is an MPS IIID is the rarest form of sanfilippo syndrome and, to date,
http://jmg.bmjjournals.com/cgi/content/full/40/3/192

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Journal of Medical Genetics
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SHORT REPORT
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
C E Beesley D Burke M Jackson A Vellodi B G Winchester and E P Young Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
Chemical Pathology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK

56. Sanfilippo Syndrome
There is no specific treatment for sanfilippo syndrome. Specific complications may respond to conventional treatments as they arise.
http://www.ehendrick.org/healthy/001210trt.htm
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Sanfilippo syndrome
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)
Treatment
There is no specific treatment for Sanfilippo syndrome. Specific complications may respond to conventional treatments as they arise.
Support Groups
National MPS Society, Inc., www.mpssociety.org
Outlook (Prognosis)
Severe retardation is the most important of the clinical problems. IQs may be below 50. Severe cases lead to death before 20 years of age. In a minority of cases, Sanfilippo is compatible with a normal lifespan. The affected person may develop retinal degeneration leading to blindness , or may have seizures
Possible Complications
  • Blindness Seizures Mental retardation Progressive neurologic disease leading to becoming wheelchair bound Inability to care for self
When to Contact a Medical Professional
Call your health care provider if your child does not seem to be growing or developing normally.

57. Sanfilippo Syndrome Type A
sanfilippo syndrome Type A. sanfilippo syndrome Type A. Below is a short sample of the essay sanfilippo syndrome Type A . If you sign up you could be
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rom the ear to the brain that is reported to be about three second delay. He has slight hip dyplasia, which is progressively getting worse due to degenerativeness of disorder. PHYSICAL EXAM/OBSERVATION: He is currently walking inward and on his toes, which I have seen him, trip over his own two feet in the course of this visit. . He is wearing customized kneepads to stop injuries to his knees due to falling, and also is wearing leg rotation straps to help assist in rotating his legs to the normal position. He shows obvious neurologically impairments, and acts more as if he is about between 18 months to three years old by being unaware of certain thing
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58. JAX®Mice Database - Mouse/Human Gene Homologs: Mucopolysaccharidosis III B, San
JAX®MICE Database Mouse/Human Gene Homologs mucopolysaccharidosis III B, sanfilippo syndrome B List.
http://jaxmice.jax.org/jaxmicedb/html/model_1465.shtml

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(link to Data Sheet) Strain Type Standard Supply Naglu /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. (1 stocks) Back to top Back to Top Research Research Resources ... The Jackson Laboratory

59. JAX®Mice Database - Mouse/Human Gene Homologs: Mucopolysaccharidosis Type IIIA,
JAX®MICE Database Mouse/Human Gene Homologs mucopolysaccharidosis type IIIA, sanfilippo syndrome type A List.
http://jaxmice.jax.org/jaxmicedb/html/model_1554.shtml

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(link to Data Sheet) Strain Type Standard Supply B6.Cg- Sgsh /PstJ Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. (1 stocks) Back to top Back to Top Research Research Resources ... The Jackson Laboratory

60. Resources For Genetic Counselors - Sanfilippo Syndrome
sanfilippo syndrome Posted on Wednesday, February 09 @ 235400 EST by debi sanfilippo syndrome. 6/30/00. I. Other names Mucopolysacchardosis III,
http://www.genesoc.com/counseling2/article145.html
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