PubMed:3180550 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/3180550","sourcedb":"PubMed","sourceid":"3180550","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/3180550","text":"Alkaptonuria and ochronosis in three siblings. Ascorbic acid treatment monitored by urinary HGA excretion.\nPatients with alkaptonuria lack homogentisate 1,2-dioxygenase leading to retention of homogentistic acid (HGA) in body fluids and eventually to tissue deposition of oxidation products, giving rise to the clinical picture of ochronosis. Ascorbic acid is a known inhibitor of the enzyme which catalyses the oxidation of homogentisic acid (HGA) to the polymer with affinity for collagen and was used in the treatment of three siblings with alkaptonuria. Ascorbic acid 500 mg bid was administered for 12 months. Two of the siblings tolerated the treatment, and in one the symptoms improved, whereas in the other they worsened. Plasma and urinary levels of HGA were monitored with a new HPLC method. Ascorbic acid is not effective in the treatment of symptomatic ochronosis.","tracks":[{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":251,"end":257},"obj":"http://purl.obolibrary.org/obo/UBERON_0000479"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"performance-test"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":139,"end":168},"obj":"gene:3081"},{"id":"T1","span":{"begin":121,"end":133},"obj":"disease:C0002066"},{"id":"T2","span":{"begin":139,"end":168},"obj":"gene:3081"},{"id":"T3","span":{"begin":331,"end":341},"obj":"disease:C0028817"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":46},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":47,"end":106},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":107,"end":342},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":343,"end":557},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":558,"end":614},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":615,"end":729},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":730,"end":801},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":802,"end":876},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":46},"obj":"Sentence"},{"id":"T2","span":{"begin":47,"end":106},"obj":"Sentence"},{"id":"T3","span":{"begin":107,"end":342},"obj":"Sentence"},{"id":"T4","span":{"begin":343,"end":557},"obj":"Sentence"},{"id":"T5","span":{"begin":558,"end":614},"obj":"Sentence"},{"id":"T6","span":{"begin":615,"end":729},"obj":"Sentence"},{"id":"T7","span":{"begin":730,"end":801},"obj":"Sentence"},{"id":"T8","span":{"begin":802,"end":876},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T8","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"},{"subj":"T8","pred":"source","obj":"sentences"}]},{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":251,"end":257},"obj":"http://purl.obolibrary.org/obo/UBERON_0000479"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"UBERON-AE"}]},{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":17,"end":27},"obj":"HP:0030764"},{"id":"AB1","span":{"begin":331,"end":341},"obj":"HP:0030764"},{"id":"AB2","span":{"begin":865,"end":875},"obj":"HP:0030764"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB2","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":0,"end":12},"obj":"ORDO:56"},{"id":"AB1","span":{"begin":121,"end":133},"obj":"ORDO:56"},{"id":"AB2","span":{"begin":544,"end":556},"obj":"ORDO:56"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB2","pred":"source","obj":"PubCasesORDO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"3180550-1#32#61#gene3081","span":{"begin":139,"end":168},"obj":"gene3081"},{"id":"3180550-1#14#26#diseaseC0002066","span":{"begin":121,"end":133},"obj":"diseaseC0002066"}],"relations":[{"id":"32#61#gene308114#26#diseaseC0002066","pred":"associated_with","subj":"3180550-1#32#61#gene3081","obj":"3180550-1#14#26#diseaseC0002066"}],"attributes":[{"subj":"3180550-1#32#61#gene3081","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"3180550-1#14#26#diseaseC0002066","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"sonoma","denotations":[{"id":"T-0","span":{"begin":0,"end":12},"obj":"DISEASE"},{"id":"T-1","span":{"begin":17,"end":27},"obj":"CPA"},{"id":"T-2","span":{"begin":272,"end":290},"obj":"MPA"},{"id":"T-3","span":{"begin":292,"end":298},"obj":"REG"},{"id":"T-4","span":{"begin":331,"end":341},"obj":"CPA"},{"id":"T-5","span":{"begin":444,"end":447},"obj":"MPA"},{"id":"T-6","span":{"begin":482,"end":490},"obj":"GENE"},{"id":"T-7","span":{"begin":544,"end":556},"obj":"DISEASE"},{"id":"T-8","span":{"begin":741,"end":755},"obj":"MPA"},{"id":"T-9","span":{"begin":759,"end":762},"obj":"GENE"},{"id":"T-10","span":{"begin":865,"end":875},"obj":"CPA"},{"id":"T-11","span":{"begin":121,"end":133},"obj":"DISEASE"},{"id":"T-12","span":{"begin":134,"end":138},"obj":"NEGREG"},{"id":"T-13","span":{"begin":180,"end":189},"obj":"MPA"},{"id":"T-14","span":{"begin":213,"end":216},"obj":"MPA"},{"id":"T-15","span":{"begin":193,"end":211},"obj":"MPA"},{"id":"T-16","span":{"begin":398,"end":407},"obj":"REG"},{"id":"T-17","span":{"begin":425,"end":442},"obj":"MPA"},{"id":"T-18","span":{"begin":139,"end":168},"obj":"ENZYME"},{"id":"T-19","span":{"begin":92,"end":105},"obj":"MPA"},{"id":"T-20","span":{"begin":412,"end":421},"obj":"MPA"}],"relations":[{"id":"R-0","pred":"ThemeOf","subj":"T-11","obj":"T-12"},{"id":"R-1","pred":"CauseOf","subj":"T-12","obj":"T-13"},{"id":"R-2","pred":"CauseOf","subj":"T-12","obj":"T-3"},{"id":"R-3","pred":"ThemeOf","subj":"T-14","obj":"T-13"},{"id":"R-4","pred":"ThemeOf","subj":"T-4","obj":"T-3"},{"id":"R-5","pred":"ThemeOf","subj":"T-9","obj":"T-8"},{"id":"R-6","pred":"ThemeOf","subj":"T-18","obj":"T-12"},{"id":"R-7","pred":"ThemeOf","subj":"T-15","obj":"T-13"},{"id":"R-8","pred":"ThemeOf","subj":"T-20","obj":"T-16"},{"id":"R-9","pred":"ThemeOf","subj":"T-17","obj":"T-20"},{"id":"R-10","pred":"ThemeOf","subj":"T-5","obj":"T-20"}],"attributes":[{"subj":"T-0","pred":"source","obj":"sonoma"},{"subj":"T-1","pred":"source","obj":"sonoma"},{"subj":"T-2","pred":"source","obj":"sonoma"},{"subj":"T-3","pred":"source","obj":"sonoma"},{"subj":"T-4","pred":"source","obj":"sonoma"},{"subj":"T-5","pred":"source","obj":"sonoma"},{"subj":"T-6","pred":"source","obj":"sonoma"},{"subj":"T-7","pred":"source","obj":"sonoma"},{"subj":"T-8","pred":"source","obj":"sonoma"},{"subj":"T-9","pred":"source","obj":"sonoma"},{"subj":"T-10","pred":"source","obj":"sonoma"},{"subj":"T-11","pred":"source","obj":"sonoma"},{"subj":"T-12","pred":"source","obj":"sonoma"},{"subj":"T-13","pred":"source","obj":"sonoma"},{"subj":"T-14","pred":"source","obj":"sonoma"},{"subj":"T-15","pred":"source","obj":"sonoma"},{"subj":"T-16","pred":"source","obj":"sonoma"},{"subj":"T-17","pred":"source","obj":"sonoma"},{"subj":"T-18","pred":"source","obj":"sonoma"},{"subj":"T-19","pred":"source","obj":"sonoma"},{"subj":"T-20","pred":"source","obj":"sonoma"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"performance-test","color":"#bfec93","default":true},{"id":"DisGeNET","color":"#ec93d9"},{"id":"sentences","color":"#93ece4"},{"id":"UBERON-AE","color":"#ecca93"},{"id":"PubCasesHPO","color":"#b093ec"},{"id":"PubCasesORDO","color":"#93ec96"},{"id":"DisGeNET5_gene_disease","color":"#ec93a9"},{"id":"sonoma","color":"#93c3ec"}]}]}}