Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Hurler_syndrome> ?p ?o }
- Hurler_syndrome abstract "Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage.MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme α-L-iduronidase. MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or Scheie syndrome and MPS I H-S or Hurler-Scheie syndrome.Hurler syndrome is often classified as a lysosomal storage disease, and is clinically related to Hunter Syndrome. Hunter syndrome is X-linked while Hurler syndrome is autosomal recessive.It is named for Gertrud Hurler (1889–1965), a German pediatrician.".
- Hurler_syndrome thumbnail Autorecessive.svg?width=300.
- Hurler_syndrome wikiPageExternalLink www.mpssociety.org.
- Hurler_syndrome wikiPageExternalLink NBK1162.
- Hurler_syndrome wikiPageExternalLink hurler-syndrome.
- Hurler_syndrome wikiPageID "1123708".
- Hurler_syndrome wikiPageLength "7682".
- Hurler_syndrome wikiPageOutDegree "70".
- Hurler_syndrome wikiPageRevisionID "678919490".
- Hurler_syndrome wikiPageWikiLink Abdomen.
- Hurler_syndrome wikiPageWikiLink Adeno-associated_virus.
- Hurler_syndrome wikiPageWikiLink Amniocentesis.
- Hurler_syndrome wikiPageWikiLink Autosome.
- Hurler_syndrome wikiPageWikiLink BioMarin_Pharmaceutical.
- Hurler_syndrome wikiPageWikiLink Carpal_tunnel_syndrome.
- Hurler_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Hurler_syndrome wikiPageWikiLink Category:Proteoglycan_metabolism_disorders.
- Hurler_syndrome wikiPageWikiLink Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Hurler_syndrome wikiPageWikiLink Category:Syndromes.
- Hurler_syndrome wikiPageWikiLink Childbirth.
- Hurler_syndrome wikiPageWikiLink Chorionic_villus_sampling.
- Hurler_syndrome wikiPageWikiLink Cord_blood.
- Hurler_syndrome wikiPageWikiLink Cornea.
- Hurler_syndrome wikiPageWikiLink Dermatan_sulfate.
- Hurler_syndrome wikiPageWikiLink Dominance_(genetics).
- Hurler_syndrome wikiPageWikiLink Dwarfism.
- Hurler_syndrome wikiPageWikiLink Ear.
- Hurler_syndrome wikiPageWikiLink Enzyme.
- Hurler_syndrome wikiPageWikiLink Enzyme_assay.
- Hurler_syndrome wikiPageWikiLink Fetus.
- Hurler_syndrome wikiPageWikiLink File:Autorecessive.svg.
- Hurler_syndrome wikiPageWikiLink Gargoyle.
- Hurler_syndrome wikiPageWikiLink Gene.
- Hurler_syndrome wikiPageWikiLink Gene_therapy.
- Hurler_syndrome wikiPageWikiLink Genetic_carrier.
- Hurler_syndrome wikiPageWikiLink Genetic_counseling.
- Hurler_syndrome wikiPageWikiLink Genetic_disorder.
- Hurler_syndrome wikiPageWikiLink Genzyme.
- Hurler_syndrome wikiPageWikiLink Gertrud_Hurler.
- Hurler_syndrome wikiPageWikiLink Glycosaminoglycan.
- Hurler_syndrome wikiPageWikiLink Hearing_loss.
- Hurler_syndrome wikiPageWikiLink Heart.
- Hurler_syndrome wikiPageWikiLink Hematopoietic_stem_cell_transplantation.
- Hurler_syndrome wikiPageWikiLink Heparan_sulfate.
- Hurler_syndrome wikiPageWikiLink Hepatosplenomegaly.
- Hurler_syndrome wikiPageWikiLink Hernia.
- Hurler_syndrome wikiPageWikiLink Hunter_syndrome.
- Hurler_syndrome wikiPageWikiLink Hurler–Scheie_syndrome.
- Hurler_syndrome wikiPageWikiLink Iduronidase.
- Hurler_syndrome wikiPageWikiLink Infection.
- Hurler_syndrome wikiPageWikiLink Intellectual_disability.
- Hurler_syndrome wikiPageWikiLink Joint.
- Hurler_syndrome wikiPageWikiLink Language.
- Hurler_syndrome wikiPageWikiLink Lentivirus.
- Hurler_syndrome wikiPageWikiLink Liver.
- Hurler_syndrome wikiPageWikiLink Lysosomal_storage_disease.
- Hurler_syndrome wikiPageWikiLink Lysosome.
- Hurler_syndrome wikiPageWikiLink Mucopolysaccharidosis.
- Hurler_syndrome wikiPageWikiLink Nerve.
- Hurler_syndrome wikiPageWikiLink Obstructive_lung_disease.
- Hurler_syndrome wikiPageWikiLink Organ_(anatomy).
- Hurler_syndrome wikiPageWikiLink Prenatal_diagnosis.
- Hurler_syndrome wikiPageWikiLink Respiratory_tract_infection.
- Hurler_syndrome wikiPageWikiLink Retina.
- Hurler_syndrome wikiPageWikiLink Retrovirus.
- Hurler_syndrome wikiPageWikiLink Scheie_syndrome.
- Hurler_syndrome wikiPageWikiLink Spleen.
- Hurler_syndrome wikiPageWikiLink Symptom.
- Hurler_syndrome wikiPageWikiLink Tongue.
- Hurler_syndrome wikiPageWikiLink Umbilical_cord.
- Hurler_syndrome wikiPageWikiLink Urine.
- Hurler_syndrome wikiPageWikiLinkText "Hunter-Hurler".
- Hurler_syndrome wikiPageWikiLinkText "Hurler syndrome".
- Hurler_syndrome wikiPageWikiLinkText "Pfaundler-Hurler syndrome".
- Hurler_syndrome diseasesdb "6067".
- Hurler_syndrome emedicinesubj "ped".
- Hurler_syndrome emedicinetopic "1031".
- Hurler_syndrome genereviewsname "Mucopolysaccharidosis Type I".
- Hurler_syndrome genereviewsnbk "NBK1162".
- Hurler_syndrome icd "277.5".
- Hurler_syndrome icd "E76.0".
- Hurler_syndrome medlineplus "1204".
- Hurler_syndrome meshid "D008059".
- Hurler_syndrome name "Hurler syndrome".
- Hurler_syndrome omim "607014".
- Hurler_syndrome wikiPageUsesTemplate Template:As_of.
- Hurler_syndrome wikiPageUsesTemplate Template:Citation_needed.
- Hurler_syndrome wikiPageUsesTemplate Template:Infobox_Disease.
- Hurler_syndrome wikiPageUsesTemplate Template:Mucopolysaccharidoses.
- Hurler_syndrome wikiPageUsesTemplate Template:Refimprove.
- Hurler_syndrome wikiPageUsesTemplate Template:Reflist.
- Hurler_syndrome wikiPageUsesTemplate Template:Rp.
- Hurler_syndrome subject Category:Autosomal_recessive_disorders.
- Hurler_syndrome subject Category:Proteoglycan_metabolism_disorders.
- Hurler_syndrome subject Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Hurler_syndrome subject Category:Syndromes.
- Hurler_syndrome hypernym Disorder.
- Hurler_syndrome type Disease.
- Hurler_syndrome type Disorder.
- Hurler_syndrome type Error.