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- Infantile_free_sialic_acid_storage_disease abstract "Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease caused when sialic acid, a kind of charged sugar, is unable to be transported out of the lysosomal membrane and instead, accumulates in the tissue and free sialic acid is excreted in the urine. Mutations in the SLC17A5 (solute carrier family 17 (anion/sugar transporter), member 50) gene cause all forms of sialic acid storage disease. The SLC17A5 gene is located on the long (q) arm of chromosome 6 between positions 14 and 15. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials.ISSD is the most severe form of the sialic acid storage diseases. Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as "coarse," seizures, bone malformations, enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly).ISSD is a rare autosomal recessive disorder and affects 1 in 528,000 live births worldwide.".
- Infantile_free_sialic_acid_storage_disease wikiPageExternalLink www.hideandseek.org.
- Infantile_free_sialic_acid_storage_disease wikiPageExternalLink br.fcgi?book=gene&part=issd.
- Infantile_free_sialic_acid_storage_disease wikiPageID "20424337".
- Infantile_free_sialic_acid_storage_disease wikiPageLength "2438".
- Infantile_free_sialic_acid_storage_disease wikiPageOutDegree "16".
- Infantile_free_sialic_acid_storage_disease wikiPageRevisionID "644206973".
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Ataxia.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Autosomal.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Autosome.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Cardiomegaly.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Category:Rare_diseases.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Chromosome_6.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Chromosome_6_(human).
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Dominance_(genetics).
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Epileptic_seizure.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Failure_to_thrive.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Hepatosplenomegaly.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Hypotonia.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Lysosomal_storage_disease.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Recessive.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Seizure.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLink Seizures.
- Infantile_free_sialic_acid_storage_disease wikiPageWikiLinkText "Infantile free sialic acid storage disease".
- Infantile_free_sialic_acid_storage_disease hasPhotoCollection Infantile_free_sialic_acid_storage_disease.
- Infantile_free_sialic_acid_storage_disease wikiPageUsesTemplate Template:No_footnotes.
- Infantile_free_sialic_acid_storage_disease subject Category:Autosomal_recessive_disorders.
- Infantile_free_sialic_acid_storage_disease subject Category:Rare_diseases.
- Infantile_free_sialic_acid_storage_disease hypernym Disease.
- Infantile_free_sialic_acid_storage_disease type Article.
- Infantile_free_sialic_acid_storage_disease type Disease.
- Infantile_free_sialic_acid_storage_disease type Article.
- Infantile_free_sialic_acid_storage_disease type Disorder.
- Infantile_free_sialic_acid_storage_disease comment "Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease caused when sialic acid, a kind of charged sugar, is unable to be transported out of the lysosomal membrane and instead, accumulates in the tissue and free sialic acid is excreted in the urine. Mutations in the SLC17A5 (solute carrier family 17 (anion/sugar transporter), member 50) gene cause all forms of sialic acid storage disease.".
- Infantile_free_sialic_acid_storage_disease label "Infantile free sialic acid storage disease".
- Infantile_free_sialic_acid_storage_disease sameAs Sialinsäure-Speicherkrankheit.
- Infantile_free_sialic_acid_storage_disease sameAs m.04zvdc3.
- Infantile_free_sialic_acid_storage_disease sameAs Q2280692.
- Infantile_free_sialic_acid_storage_disease sameAs Q2280692.
- Infantile_free_sialic_acid_storage_disease wasDerivedFrom Infantile_free_sialic_acid_storage_disease?oldid=644206973.
- Infantile_free_sialic_acid_storage_disease isPrimaryTopicOf Infantile_free_sialic_acid_storage_disease.