41. Health Library - Sanfilippo Syndrome sanfilippo syndrome. Synonyms urine. There are four types of SanfilippoSyndrome; types A and B are the most common forms. Resources. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

42. Sanfilippo Syndrome - General Practice Notebook sanfilippo syndrome. sanfilippo syndrome is a lysosomal disease caused by defectsin 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...

43. 2001-Fu-GENE THERAPY OF SANFILIPPO SYNDROME USING ADENO-ASSOCIATED VIRAL VECTORS GENE THERAPY OF sanfilippo syndrome USING ADENOASSOCIATED VIRAL VECTORS. Nodefinite treatment is available for patients with sanfilippo syndrome. http://www.arc.ucla.edu/biolchem/mps/01therapy/abstracts/MuenzerJ-MPS IIIB thera

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

44. 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.arc.ucla.edu/biolchem/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

45. Health Library - Sanfilippo Syndrome Saint Luke's Health System eLibrary. sanfilippo syndrome. There are four typesof sanfilippo syndrome; types A and B are the most common forms. Resources. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h

46. SANFILIPPO A SYNDROME Offers a definition, the epidemiology, pathogenesis, clinical features, investigation and management.Category Health Conditions and Diseases sanfilippo syndrome......Pediatric Database (PEDBASE); Discipline MET; Last Updated 8/02/94SANFILIPPO A SYNDROME. DEFINITION A lysosomal storage disorder http://www.icondata.com/health/pedbase/files/SANFILIP.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 8/02/94 SANFILIPPO A SYNDROME DEFINITION: A lysosomal storage disorder characterized by the accumulation of acid mucopolysaccharide (heparan sulfate) in the central nervous system (CNS) and peripheral tissue. EPIDEMIOLOGY: incidence: 1/24,000 births age of onset: 2 to 6 years of age (2/3rd's before age 4 years) risk factors: familial - autosomal recessive chrom. #: ? gene: heparan N-sulfatase M = F frequent in the British population and Cayman Islands PATHOGENESIS: 1. Background heparan N-sulfatase is a lysosomal enzyme which catalyzes the breakdown of heparan sulfate (HS) disease first described in 1963 by Dr. Sanfilippo at U. of Minn. and is now classified as Mucopolysaccharidosis Type IIIA (MPS-IIIA) 2. Genetic Defect patients with MPS-III make up a genetically diverse but phenotypically similar group MPS-IIIA is the most severe with earlier onset, more rapid progression of symptoms, and shorter survival MPS-IIIA tends to have 3 main stages: 1. preschool: appearance of developmental delay, hyperactivity, difficult behaviour, and decreasing mentation

47. Lisa's Story Hospital for tests. The doctors said that she had an incurable geneticcondition called sanfilippo syndrome. I was devastated because http://www.jeansforgenes.com/2_about/2017_lisas_story.php

About the Charities: MPS: "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.

48. AD HOC BIBLIO - INDEX SUJETS LETTRE S Compilé Le 14/01/03 Sandifer's Syndrome in a child with asthma and cerebral palsy .a;sanfilippo syndrome MucopolysaccharidosisIII (MPS - III http://www.cidg.com/~marienf/k/i/mid1s.htm

S Sacralgie Support aux familles - FIN - Sacralgie... Le traitement des lombosacralgies.... [a] Safety Risk Scale... Adolescent Brain Injury tool : Safety Risk Scale and guidelines.... [a] Salivation... A practical approach to saliva control.... [m] A practical approach to saliva control.... [m] Automatic cueing strategies to reduce drooling in people with mental handicap.... [a] Botulinum Toxin as a treatment for excessive drooling in children... [a] Clinical study of Botulinum-A Toxinin the treatment of sialhorrhea in children w... [a] Controlling drooling.... [a] Decreasing drooling with oral motor stimulation in children with multiple disabi... [a] Dental health of children with cerebral palsy following sialodochoplasty... [a] Deterioration of feeding behavior following surgical treatment of drooling.... [a] Drooling in the developmentally disabled : management practices and recommendati... [a] Effect of antireflux medication on salivary drooling in children with Cerebral P... [a] [a] [a] [a] Long-term outcome of saliva-control surgery.... [a] [a] Management of drooling : 10 years after the Consortium on drooling, 1990...

49. New Antiepileptic Drugs.... Titre/Title, Developmental Medicine Child Neurology. Article, Sleep problemsin children with sanfilippo syndrome. Identification, no.6 38 1996 Pages 53844. http://www.cidg.com/~marienf/k/i/n/m012101.htm

# Article : A0009502 Cote/Call Number Auteur/Author Dichter, Marc A. Brodie, Martin J. Titre/Title New England Journal of Medicine (The) Article New antiepileptic drugs. Identification no.24 334 1996 Pages: 1583-90 Descripteurs/Descriptors Traitement Demande par courrier Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

50. Searchalot Directory For Sanfilippo Syndrome Related Web Sites. NORD sanfilippo syndrome - Offers a list of synonyms,a general discussion and further resources. Ben's Dream http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Sanf

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Sanfilippo Syndrome Related Web Sites NORD - Sanfilippo Syndrome - Offers a list of synonyms, a general discussion and further resources. 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. Pediatric Database - Offers a definition, the epidemiology, pathogenesis, clinical features, investigation and management. MPS III: Sanfilippo Syndrome - Information, including the causes, different forms, the inheritance and how the disorder progresses. Related Categories Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia

51. Tufts E-News -- The Forgotten Patients Tufts ENews The Forgotten Patients Though 1 in 15000 newborns is diagnosed withsanfilippo syndrome, a Tufts expert says the patients are often overlooked 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."

52. Department Of Chemical Pathology MPS I (Hurler syndrome, Scheie syndrome) MPS II (Hunter syndrome) MPS IIIA (Sanfilipposyndrome A) MPS IIIB (sanfilippo syndrome B) MPS IIIC (Sanfilippo http://www.wch.sa.gov.au/nrl/sections/diagnostic/nrl/available.html

List of screens List of tests Molecular analyses Screens Associated Diseases Performed in the Metabolic Laboratory MPS I (Hurler syndrome, Scheie syndrome) MPS II (Hunter syndrome) MPS IIIA (Sanfilippo syndrome A) MPS IIIB (Sanfilippo syndrome B) MPS IIIC (Sanfilippo syndrome C) MPS IIID (Sanfilippo syndrome D) MPS IVA (Morquio syndrome A) MPS IVB (Morquio syndrome B) MPS VI (Maroteaux-Lamy syndrome) MPS VII (Sly syndrome) Neurolipidoses (lysosomal enzyme) screen Acid lipase deficiency (Wolman disease) Fucosidosis Gaucher disease GM1-gangliosidosis Krabbe disease Metachromatic leucodystrophy MPS VII Mucolipidosis type II (I-cell disease) Mucolipidosis type III Sandhoff disease Tay-Sachs disease Oligosaccharide screen (urine) Aspartylglucosaminuria Fucosidosis Galactosialidosis GM1 gangliosidosis GM2 gangliosidosis type 2 Mucolipidosis type II (I-cell disease) Mucolipidosis type III Sialic acid storage disease Sialidosis Test Associated Disease(s) N-acetylgalactosamine-4-sulphatase MPS VI (Maroteaux-Lamy syndrome) N-acetylgalactose-6-sulphatase MPS IVA (Morquio syndrome A) N-acetylglucosamine-6-sulphatase MPS IIID (Sanfilippo syndrome D) MPS IIIB (Sanfilippo syndrome B) Arylsulphatase A Metachromatic leucodystrophy Aspartylglucosaminuria Bile acid intermediates Peroxisomal biogenesis disorders Isolated peroxisomal b-oxidation disorders Bile alcohols Cerebrotendinous xanthomatosis Branching enzyme GSD IV (Andersen disease) Carnitine palmitoyl transferase (CPT) I (Metabolic laboratory)

53. Jill's Fund sanfilippo syndrome. sanfilippo syndrome, also considered a genetic error of metabolism,is a mucopolysaccharide disorder and is referred to as MPS III. http://www.jillsfund.org/mps.htm

Sanfilippo Syndrome Introduction Sanfilippo syndrome is a rare genetic disorder characterized by mental deterioration, mild physical defects, and behavioral problems. Sanfilippo syndrome, also considered a genetic error of metabolism, is a mucopolysaccharide disorder and is referred to as MPS - III. Mucopolysaccharides are long chains of sugar molecules which are used in building connective tissue. Typically, when the body is finished using these sugar molecules, it breaks them down with enzymes and disposes of them. Children with Sanfilippo syndrome, however, are missing the enzyme to breakdown the molecules and instead store them in cells in their body. The storage of these molecules then causes progressive damage. As a result, infants may not show signs of the disorder, but as the child grows and more cells become damaged, the symptoms become more obvious and worsen. There are four different enzyme deficiencies that cause Sanfilippo syndrome, therefore, the syndrome is classified as being either type A,B,C, or D. Type A is caused by a deficiency of the enzyme known as heparan sulfatase and is the most severe type with earlier onset and earlier death than the others. Type A is also the most common form of Sanfilippo syndrome. Type B is the second most common, and is the result of a deficiency of the enzyme known as N-acetyl-alpha-D-glucosaminidase (NAG). Type C is caused by a deficiency in acetyl CoA: a-glucosamine N acetyl transferase and type D is caused by a deficiency in N acetyl glucosamine 6-sulphate sulphatase.

54. EMedicine - Mucopolysaccharidoses Types I-VII : Article Excerpt By: Janette Balo MPS type IS, Scheie syndrome, MPS type V, MPS type IH/S, HurlerScheie syndrome,MPS type II, Hunter syndrome, MPS type III-A, sanfilippo syndrome type A, MPS 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.

55. EMedicine - Mucopolysaccharidosis Type III : Article Excerpt By: Donald Nash, Ph Severe mental retardation can also occur and is usually associated with Hurler syndrome(MPSIH), Hunter syndrome (MPS-II), and sanfilippo syndrome (MPS-III). 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.

56. Welcome To ENH.org - Health Encyclopedia: Sanfilippo Syndrome sanfilippo syndrome. This substance is called heparan sulfate, and in Sanfilipposyndrome, large amounts of it are excreted in the urine. Alternative Names http://www.enh.org/Encyclopedia/ency/article/001210.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Sanfilippo syndrome Disease Injury Nutrition Poison ... Z 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

57. Cord Blood Registry - Stem Cell News Kaiser Permanente Agrees to Contribute $1M to Provide Cord Blood Treatmentfor Two Children with sanfilippo syndrome US Newswire September 04, 2002. http://www.cordblood.com/news/stemcell_news/a_kaiser.asp

Call toll free: 1-888-CORD BLOOD Stem Cell News Clinical Studies and Research Home Search ... Site Map News: Stem Cell News "Once we learned the potential use of cord blood stem cells we decided we must bank for both our children. It gives us tremendous peace of mind knowing that we have preserved the stem cells." April Lochhead Tucson, Arizona Kaiser Permanente Agrees to Contribute $1M to Provide Cord Blood Treatment for Two Children with Sanfilippo Syndrome U.S. Newswire September 04, 2002 OAKLAND, Calif., Sept. 4 /U.S. Newswire/ Kaiser Permanente announced its decision to provide a $1 million research grant to Duke University to provide treatment for two children with a rare genetic disorder. The Foundation for Taxpayer and Consumer Rights (FTCR) commended Kaiser for the decision delivered to FTCR's Jerry Flanagan and the Bennett family moments before a press conference at the health insurer's headquarters was scheduled to begin. After an impromptu meeting inside the Kaiser headquarters with consumer advocates, senior Kaiser officials, and Bennett family, the emotional and relieved parents announced the Kaiser decision to reporters waiting outside. Kaiser rejected coverage for the therapy, concluding that it is experimental and there is no evidence that it will benefit the children. However, other insurers have approved coverage of the treatment provided at Duke University for other children suffering from Sanfilippo syndrome. At the press conference, Theresa Morris, mother of a boy successfully treated at Duke for Sanfilippo Syndrome, spoke of her experiences and countered Kaiser's claim that the stem cell transplant procedure is an ineffective treatment for the disease. Although the treatment is not a cure it may delay the effects of the disease and lengthen and improve the quality of the children's lives.

58. NORD - National Organization For Rare Disorders, Inc. sanfilippo syndrome. To purchase fulltext report ($7.50) Copyright 1987,1988, 1989, 1990, 1998 Synonyms of sanfilippo syndrome MPS Disorder III; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sanfilippo Sy

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

60. History Of The MPS Diseases 1961, sanfilippo syndrome recognised as being a separate disease. Priorto this it had been considered as a form of Hurler Syndrome. http://www.mpssociety.ca/diseasehist.php3

History of the MPS Diseases Home The Society Members About MPS ... Supporters The history of these diseases begins in the early years of this century when a child was seen in the Royal Infirmary in Edinburgh. He had all the features later to become familiar as being characteristic of mucopolysaccharide storage diseases. Not knowing anything about the diseases, the physicians called it "Johnny McL's disease". Then, in 1917, two patients were reported in the medical literature by Dr. Hunter from Winnipeg. Two years later a patient was recorded by Dr. Hurler in Germany. All of these patients exhibited coarse features, an enlarged liver and spleen, clawing of the hands and bony deformities. The German patient was severely retarded. The reports by Drs. Hunter and Hurler were later read by other physicians and it became obvious that there were other children who looked like the patients and had similar characteristics. The eponym for the condition became Hurler Syndrome. Worthy of note is that the first careful description of the disease was made here in Canada. Timeline of Discovery Note that dates are approximate.

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