Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal...
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Mucopolysaccharidosis (redirect from Mucopolysaccharidosis type I Hurler syndrome)
acetyltransferase. Sanfilippo D is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase. The incidence of Sanfilippo syndrome (for all four...
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sending Wragg to prison for the crime. Hurler syndrome (MPS I) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) Prenatal testing Genetic counseling...
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Macrocephaly (redirect from Learman syndrome)
aciduria type II GM1 gangliosidosis Hunter syndrome Hurler syndrome MPS VII Sanfilippo syndrome Zellweger syndrome Achondroplasia Campomelic dysplasia Craniodiaphyseal...
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designation of Scheie syndrome. Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) Maroteaux–Lamy syndrome (MPS VI) James WD...
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Sandifer syndrome Sanfilippo syndrome Sanjad-Sakati syndrome SAPHO syndrome Satoyoshi syndrome Savant syndrome Say syndrome Say–Meyer syndrome Scalp–ear–nipple...
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invented Idle scan. Sylvester Sanfilippo, an American pediatrician who discovered the Sanfilippo syndrome Tom SanFilippo, guitarist for the music group...
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a mucopolysaccharide storage disease that bears his name - Sanfilippo syndrome. Sanfilippo was born in Rochester, New York. After graduating from the...
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3:01:40. Miller is an advocate for finding treatment and cure for Sanfilippo syndrome. In 2014, he addressed the Congressional caucus in Washington, D...
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Genistein (section Sanfilippo syndrome treatment)
Genistein decreases pathological accumulation of glycosaminoglycans in Sanfilippo syndrome. In vitro animal studies and clinical experiments suggest that the...
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in French.{{<}} Hurler syndrome (MPS I) Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III) Dwarfism "MPS IV (Morquio syndrome)". MPSSociety.org. National...
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suffering from the rare and fatal disease Sanfilippo Syndrome. Proceeds from the songs went to Sanfilippo Children's Foundation, a not-for-profit charity...
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Premenstrual syndrome (PMS) is a disruptive set of emotional and physical symptoms that regularly occur in the one to two weeks before the start of each...
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designation of Scheie syndrome. Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) "Mucopolysaccharidoses Fact Sheet". National...
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encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due...
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List of genetic disorders (redirect from List of genetic syndromes)
RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
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in the U.S. permanently. Hurler syndrome (MPS I) Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) Rapini, Ronald P.; Bolognia...
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Porphyria: 53 Retinoblastoma[citation needed] Sickle-cell disease: 53 Sanfilippo syndrome[citation needed] Tay–Sachs disease: 53 Wet (dominant) or dry (recessive)...
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Special education (section Down syndrome)
disabilities (such as osteogenesis imperfecta, down syndrome, lissencephaly, paralysis, Sanfilippo syndrome, and muscular dystrophy), developmental disabilities...
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MPS I Hurler syndrome MPS I S Scheie syndrome MPS I H-S Hurler–Scheie syndrome Type II (Hunter syndrome) Type III (Sanfilippo syndrome) MPS III A (Type...
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enzyme that in humans is encoded by the GNS gene. It is deficient in Sanfilippo Syndrome type IIId. It catalyses the hydrolysis of the 6-sulfate groups of...
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campaign which raised over US$2M for Eliza O'Neill, a sufferer of Sanfilippo syndrome. Since 2017, Von Wong (Chinese: 烽煌; pinyin: Fēng Huáng) has focused...
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α-D-2-acetamido-2-deoxyglucosidase) is a protein associated with Sanfilippo syndrome, with systematic name α-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase...
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Samson–Viljoen syndrome Sanderson–Fraser syndrome Sandhaus–Ben Ami syndrome Sandhoff disease Sandrow–Sullivan–Steel syndrome Sanfilippo syndrome Santavuori...
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Romberg syndrome Savant syndrome Saint Vitus dance Sandhoff disease Sanfilippo syndrome Schilder's disease (two distinct conditions) Schizencephaly Sclerosis...
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post-surgical malformations of the mouth and esophagus, cancer, Sanfilippo syndrome, and digestive disorders. Feeding tubes are used widely in children...
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Hurler syndrome) MPS II Mucopolysaccharoidosis type II (see Hunter syndrome) MPS III Mucopolysaccharoidosis type III (see Sanfilippo syndrome) MPS IV...
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Osteogenesis imperfecta Potocki–Lupski syndrome Proximal symphalangism Sanfilippo syndrome Smith–Magenis syndrome Usher syndrome Very long-chain acyl-coenzyme...
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Pingelapese blindness Langer–Giedion syndrome Roberts syndrome Hepatocellular carcinoma Sanfilippo syndrome G-banding ideograms of human chromosome 8 "Homo...
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(RMAT) Designation Granted for OTL-103 for the Treatment of Wiskott-Aldrich Syndrome". GlobeNewswire News Room (Press release). Archived from the original on...
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