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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 diseasesdb "29177".
- Sanfilippo_syndrome emedicineSubject "ped".
- Sanfilippo_syndrome emedicineTopic "2040".
- Sanfilippo_syndrome icd10 "E76.2".
- Sanfilippo_syndrome icd9 "277.5".
- Sanfilippo_syndrome medlineplus "001210".
- 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 wikiPageRevisionID "604371642".
- 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 wordnet_type synset-disease-noun-1.
- 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 type Abstraction100002137.
- Sanfilippo_syndrome type Attribute100024264.
- Sanfilippo_syndrome type AutosomalRecessiveDisorders.
- Sanfilippo_syndrome type Cognition100023271.
- Sanfilippo_syndrome type Complex105870365.
- Sanfilippo_syndrome type Concept105835747.
- Sanfilippo_syndrome type Condition113920835.
- Sanfilippo_syndrome type Content105809192.
- Sanfilippo_syndrome type Disorder114052403.
- Sanfilippo_syndrome type Idea105833840.
- Sanfilippo_syndrome type PhysicalCondition114034177.
- Sanfilippo_syndrome type ProteoglycanMetabolismDisorders.
- Sanfilippo_syndrome type PsychologicalFeature100023100.
- Sanfilippo_syndrome type SkinConditionsResultingFromErrorsInMetabolism.
- Sanfilippo_syndrome type State100024720.
- Sanfilippo_syndrome type Syndrome105870790.
- Sanfilippo_syndrome type Syndromes.
- Sanfilippo_syndrome type Whole105869584.
- Sanfilippo_syndrome type Disease.
- Sanfilippo_syndrome type AilmentCondition.
- Sanfilippo_syndrome type Situation.
- Sanfilippo_syndrome comment "Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal storage disease.".
- Sanfilippo_syndrome label "Maladie de Sanfilippo".
- Sanfilippo_syndrome label "Mucopolissacaridose tipo III B".
- Sanfilippo_syndrome label "Sanfilippo syndrome".
- Sanfilippo_syndrome label "Sanfilippo-Syndrom".
- Sanfilippo_syndrome label "Sindrome di Sanfilippo".
- Sanfilippo_syndrome label "Síndrome de Sanfilippo".
- Sanfilippo_syndrome label "Zespół Sanfilippo".
- Sanfilippo_syndrome label "Ziekte van Sanfilippo".
- Sanfilippo_syndrome sameAs Sanfilippo-Syndrom.
- Sanfilippo_syndrome sameAs Síndrome_de_Sanfilippo.
- 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 Q2200359.
- Sanfilippo_syndrome sameAs Q2200359.
- Sanfilippo_syndrome sameAs 1018.
- Sanfilippo_syndrome sameAs 3205.
- Sanfilippo_syndrome sameAs 3211.
- Sanfilippo_syndrome sameAs Sanfilippo_syndrome.
- Sanfilippo_syndrome wasDerivedFrom Sanfilippo_syndrome?oldid=604371642.
- Sanfilippo_syndrome depiction Autorecessive.svg.
- Sanfilippo_syndrome isPrimaryTopicOf Sanfilippo_syndrome.
- Sanfilippo_syndrome name "Sanfilippo Syndrome".