Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Sanfilippo_syndrome> ?p ?o }
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- Sanfilippo_syndrome abstract "Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down 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.The condition is named for Sylvester Sanfilippo, the pediatrician who first described the disease.".
- Sanfilippo_syndrome icd10 "E76.2".
- Sanfilippo_syndrome icd9 "277.5".
- Sanfilippo_syndrome meshId "D009084".
- Sanfilippo_syndrome omim "252900".
- Sanfilippo_syndrome thumbnail Autorecessive.svg?width=300.
- Sanfilippo_syndrome wikiPageExternalLink NCT01474343.
- Sanfilippo_syndrome wikiPageExternalLink booklet_MPS_III_v6.pdf.
- Sanfilippo_syndrome wikiPageExternalLink www.mpssociety.org.
- Sanfilippo_syndrome wikiPageExternalLink index.php?option=com_content&view=article&id=19&Itemid=19.
- Sanfilippo_syndrome wikiPageID "817107".
- Sanfilippo_syndrome wikiPageLength "10317".
- Sanfilippo_syndrome wikiPageOutDegree "29".
- Sanfilippo_syndrome wikiPageRevisionID "679546929".
- Sanfilippo_syndrome wikiPageWikiLink Acetyl-CoA:alpha-glucosaminide_acetyltransferase.
- Sanfilippo_syndrome wikiPageWikiLink Alpha-N-acetylglucosaminidase.
- Sanfilippo_syndrome wikiPageWikiLink Autosomal_recessive.
- Sanfilippo_syndrome wikiPageWikiLink Blood–brain_barrier.
- Sanfilippo_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Sanfilippo_syndrome wikiPageWikiLink Category:Proteoglycan_metabolism_disorders.
- Sanfilippo_syndrome wikiPageWikiLink Category:Rare_diseases.
- Sanfilippo_syndrome wikiPageWikiLink Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Sanfilippo_syndrome wikiPageWikiLink Category:Syndromes.
- Sanfilippo_syndrome wikiPageWikiLink Dominance_(genetics).
- Sanfilippo_syndrome wikiPageWikiLink File:Autorecessive.svg.
- Sanfilippo_syndrome wikiPageWikiLink Gene_therapy.
- Sanfilippo_syndrome wikiPageWikiLink Genistein.
- Sanfilippo_syndrome wikiPageWikiLink Glycosaminoglycan.
- Sanfilippo_syndrome wikiPageWikiLink HGSNAT.
- Sanfilippo_syndrome wikiPageWikiLink Heparan_N-sulfatase.
- Sanfilippo_syndrome wikiPageWikiLink List_of_cutaneous_conditions.
- Sanfilippo_syndrome wikiPageWikiLink Lysosomal_storage_disease.
- Sanfilippo_syndrome wikiPageWikiLink Mucopolysaccharidosis.
- Sanfilippo_syndrome wikiPageWikiLink N-acetyl-alpha-D-glucosaminidase.
- Sanfilippo_syndrome wikiPageWikiLink N-acetylglucosamine-6-sulfatase.
- Sanfilippo_syndrome wikiPageWikiLink N-acetylglucosamine-G-sulfate_sulfatase.
- Sanfilippo_syndrome wikiPageWikiLink Pediatrician.
- Sanfilippo_syndrome wikiPageWikiLink Pediatrics.
- Sanfilippo_syndrome wikiPageWikiLink Pica_(disorder).
- Sanfilippo_syndrome wikiPageWikiLink SGSH.
- Sanfilippo_syndrome wikiPageWikiLink Stem_cell.
- Sanfilippo_syndrome wikiPageWikiLink Sylvester_Sanfilippo.
- Sanfilippo_syndrome wikiPageWikiLink Tantrum.
- Sanfilippo_syndrome wikiPageWikiLink Temper_tantrums.
- Sanfilippo_syndrome wikiPageWikiLinkText "MPS IIIB".
- Sanfilippo_syndrome wikiPageWikiLinkText "Sanfilippo Syndrome".
- Sanfilippo_syndrome wikiPageWikiLinkText "Sanfilippo syndrome B".
- Sanfilippo_syndrome wikiPageWikiLinkText "Sanfilippo syndrome".
- Sanfilippo_syndrome diseasesdb "29177".
- Sanfilippo_syndrome emedicinesubj "ped".
- Sanfilippo_syndrome emedicinetopic "2040".
- Sanfilippo_syndrome hasPhotoCollection Sanfilippo_syndrome.
- Sanfilippo_syndrome icd "277.5".
- Sanfilippo_syndrome icd "E76.2".
- Sanfilippo_syndrome medlineplus "1210".
- Sanfilippo_syndrome meshid "D009084".
- Sanfilippo_syndrome name "Sanfilippo Syndrome".
- Sanfilippo_syndrome omim "252900".
- Sanfilippo_syndrome wikiPageUsesTemplate Template:Citation_needed.
- Sanfilippo_syndrome wikiPageUsesTemplate Template:Expert-subject.
- Sanfilippo_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Sanfilippo_syndrome wikiPageUsesTemplate Template:Mucopolysaccharidoses.
- Sanfilippo_syndrome wikiPageUsesTemplate Template:Reflist.
- Sanfilippo_syndrome subject Category:Autosomal_recessive_disorders.
- Sanfilippo_syndrome subject Category:Proteoglycan_metabolism_disorders.
- Sanfilippo_syndrome subject Category:Rare_diseases.
- Sanfilippo_syndrome subject Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Sanfilippo_syndrome subject Category:Syndromes.
- Sanfilippo_syndrome hypernym Disease.
- Sanfilippo_syndrome type Article.
- Sanfilippo_syndrome type Disease.
- Sanfilippo_syndrome type Article.
- Sanfilippo_syndrome type Disorder.
- Sanfilippo_syndrome type Error.
- Sanfilippo_syndrome type Proteoglycan.
- Sanfilippo_syndrome type Syndrome.
- Sanfilippo_syndrome type Thing.
- Sanfilippo_syndrome type Q12136.
- Sanfilippo_syndrome comment "Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal storage disease.".
- Sanfilippo_syndrome label "Sanfilippo syndrome".
- Sanfilippo_syndrome sameAs Category:Sanfilippo_syndrome.
- Sanfilippo_syndrome sameAs Sanfilippo-Syndrom.
- Sanfilippo_syndrome sameAs Síndrome_de_Sanfilippo.
- Sanfilippo_syndrome sameAs بیماری_سان_فلیپو.
- Sanfilippo_syndrome sameAs Maladie_de_Sanfilippo.
- Sanfilippo_syndrome sameAs Sindrome_di_Sanfilippo.
- Sanfilippo_syndrome sameAs Ziekte_van_Sanfilippo.
- Sanfilippo_syndrome sameAs Zespół_Sanfilippo.
- Sanfilippo_syndrome sameAs Mucopolissacaridose_tipo_III_B.
- Sanfilippo_syndrome sameAs m.03dx10.
- Sanfilippo_syndrome sameAs Синдром_Санфилиппо.
- Sanfilippo_syndrome sameAs Q2200359.
- Sanfilippo_syndrome sameAs Q2200359.
- Sanfilippo_syndrome wasDerivedFrom Sanfilippo_syndrome?oldid=679546929.
- Sanfilippo_syndrome depiction Autorecessive.svg.
- Sanfilippo_syndrome isPrimaryTopicOf Sanfilippo_syndrome.
- Sanfilippo_syndrome name "Sanfilippo Syndrome".