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PubMed:523196 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-125 Sentence denotes Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.
TextSentencer_T2 126-233 Sentence denotes The patient, H.Chr.B., was among the first reported with hyperuricemia and central nervous system symptoms.
TextSentencer_T3 234-416 Sentence denotes He has been found to have a variant of hypoxanthine guanine phosphoribosyl transferase (HPRT; E.C.2.4.2.8) distinct from the enzyme present in patients with the Lesch-Nyhan syndrome.
TextSentencer_T4 417-499 Sentence denotes The patient had chroeoathetosis, spasticity, dysarthric speech, and hyperuricemia.
TextSentencer_T5 500-579 Sentence denotes However, his intelligence was normal and he had no evidence of self-mutilation.
TextSentencer_T6 580-700 Sentence denotes There was no activity of HPRT in the lysates of erythrocytes and cultured fibroblasts when analyzed in the usual manner.
TextSentencer_T7 701-942 Sentence denotes Using a newly developed method for the study of purine metabolism in intact cultured cells, this patient was found to metabolize some 9% of 8-14C-hypoxanthine, and 90% of the isotope utilized was converted to adenine and guanine nucleotides.
TextSentencer_T8 943-1078 Sentence denotes In contrast, cells from patients with the Lesch-Nyhan syndrome were virtually completely unable to convert hypoxanthine to nucleotides.
TextSentencer_T9 1079-1274 Sentence denotes The patient's fibroblasts were even more efficient in the metabolism of 8-14C-guanine, which was utilized to the extent of 27%, over 80% of which was converted to guanine and adenine nucleotides.
TextSentencer_T10 1275-1494 Sentence denotes The growth of the cultured fibroblasts of this patient was intermediate in media containing hypoxanthine aminopterin thymidine (HAT), whereas the growth of Lesch-Nyhan cells was inhibited and normal cells grew normally.
TextSentencer_T11 1495-1648 Sentence denotes Similarly in 8-azaguanine, 6-thioguanine, and 8-azahypoxanthine, the growth of the patient's cells was intermediate between normal and Lesch-Nyhan cells.
TextSentencer_T12 1649-1794 Sentence denotes These observations provide further evidence for genetic heterogeneity among patients with disorders in purine metabolism involving the HPRT gene.
TextSentencer_T13 1795-1872 Sentence denotes They document that this famous patient did not have the Lesch-Nyhan syndrome.
T1 0-125 Sentence denotes Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.
T2 126-233 Sentence denotes The patient, H.Chr.B., was among the first reported with hyperuricemia and central nervous system symptoms.
T3 234-416 Sentence denotes He has been found to have a variant of hypoxanthine guanine phosphoribosyl transferase (HPRT; E.C.2.4.2.8) distinct from the enzyme present in patients with the Lesch-Nyhan syndrome.
T4 417-499 Sentence denotes The patient had chroeoathetosis, spasticity, dysarthric speech, and hyperuricemia.
T5 500-579 Sentence denotes However, his intelligence was normal and he had no evidence of self-mutilation.
T6 580-700 Sentence denotes There was no activity of HPRT in the lysates of erythrocytes and cultured fibroblasts when analyzed in the usual manner.
T7 701-942 Sentence denotes Using a newly developed method for the study of purine metabolism in intact cultured cells, this patient was found to metabolize some 9% of 8-14C-hypoxanthine, and 90% of the isotope utilized was converted to adenine and guanine nucleotides.
T8 943-1078 Sentence denotes In contrast, cells from patients with the Lesch-Nyhan syndrome were virtually completely unable to convert hypoxanthine to nucleotides.
T9 1079-1274 Sentence denotes The patient's fibroblasts were even more efficient in the metabolism of 8-14C-guanine, which was utilized to the extent of 27%, over 80% of which was converted to guanine and adenine nucleotides.
T10 1275-1494 Sentence denotes The growth of the cultured fibroblasts of this patient was intermediate in media containing hypoxanthine aminopterin thymidine (HAT), whereas the growth of Lesch-Nyhan cells was inhibited and normal cells grew normally.
T11 1495-1648 Sentence denotes Similarly in 8-azaguanine, 6-thioguanine, and 8-azahypoxanthine, the growth of the patient's cells was intermediate between normal and Lesch-Nyhan cells.
T12 1649-1794 Sentence denotes These observations provide further evidence for genetic heterogeneity among patients with disorders in purine metabolism involving the HPRT gene.
T13 1795-1872 Sentence denotes They document that this famous patient did not have the Lesch-Nyhan syndrome.

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 183-196 HP:0002149 denotes hyperuricemia
AB2 450-460 HP:0001257 denotes spasticity
AB3 485-498 HP:0002149 denotes hyperuricemia
AB4 563-578 HP:0000742 denotes self-mutilation

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 201-208 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T2 201-223 http://purl.obolibrary.org/obo/UBERON_0001017 denotes central nervous system
PD-UBERON-AE-B_T3 209-223 http://purl.obolibrary.org/obo/UBERON_0001016 denotes nervous system

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 104-124 ORDO:510 denotes Lesch-Nyhan syndrome
AB1 395-415 ORDO:510 denotes Lesch-Nyhan syndrome
AB2 985-1005 ORDO:510 denotes Lesch-Nyhan syndrome
AB3 1851-1871 ORDO:510 denotes Lesch-Nyhan syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 201-208 http://purl.obolibrary.org/obo/UBERON_0012131 denotes central
PD-UBERON-AE-B_T2 201-223 http://purl.obolibrary.org/obo/UBERON_0001017 denotes central nervous system
PD-UBERON-AE-B_T3 209-223 http://purl.obolibrary.org/obo/UBERON_0001016 denotes nervous system

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 104-124 SpecificDisease:D007926 denotes Lesch-Nyhan syndrome
T2 183-196 SpecificDisease:D033461 denotes hyperuricemia
T3 201-232 DiseaseClass:D002493 denotes central nervous system symptoms
T4 395-415 SpecificDisease:D007926 denotes Lesch-Nyhan syndrome
T5 433-448 SpecificDisease:C537181 denotes chroeoathetosis
T6 450-460 SpecificDisease:D009128 denotes spasticity
T7 462-479 SpecificDisease:D004401 denotes dysarthric speech
T8 485-498 SpecificDisease:D033461 denotes hyperuricemia
T9 985-1005 SpecificDisease:D007926 denotes Lesch-Nyhan syndrome
T10 1431-1442 Modifier:D007926 denotes Lesch-Nyhan
T11 1630-1641 Modifier:D007926 denotes Lesch-Nyhan
T12 1851-1871 SpecificDisease:D007926 denotes Lesch-Nyhan syndrome

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T3808 104-124 SpecificDisease denotes Lesch-Nyhan syndrome D007926
T3809 183-196 SpecificDisease denotes hyperuricemia D033461
T3810 201-232 DiseaseClass denotes central nervous system symptoms D002493
T3811 395-415 SpecificDisease denotes Lesch-Nyhan syndrome D007926
T3812 433-448 SpecificDisease denotes chroeoathetosis C537181
T3813 450-460 SpecificDisease denotes spasticity D009128
T3814 462-479 SpecificDisease denotes dysarthric speech D004401
T3815 485-498 SpecificDisease denotes hyperuricemia D033461
T3816 985-1005 SpecificDisease denotes Lesch-Nyhan syndrome D007926
T3817 1431-1442 Modifier denotes Lesch-Nyhan D007926
T3818 1630-1641 Modifier denotes Lesch-Nyhan D007926
T3819 1851-1871 SpecificDisease denotes Lesch-Nyhan syndrome D007926

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T3808 104-124 SpecificDisease denotes Lesch-Nyhan syndrome D007926
T3809 183-196 SpecificDisease denotes hyperuricemia D033461
T3810 201-232 DiseaseClass denotes central nervous system symptoms D002493
T3811 395-415 SpecificDisease denotes Lesch-Nyhan syndrome D007926
T3812 433-448 SpecificDisease denotes chroeoathetosis C537181
T3813 450-460 SpecificDisease denotes spasticity D009128
T3814 462-479 SpecificDisease denotes dysarthric speech D004401
T3815 485-498 SpecificDisease denotes hyperuricemia D033461
T3816 985-1005 SpecificDisease denotes Lesch-Nyhan syndrome D007926
T3817 1431-1442 Modifier denotes Lesch-Nyhan D007926
T3818 1630-1641 Modifier denotes Lesch-Nyhan D007926
T3819 1851-1871 SpecificDisease denotes Lesch-Nyhan syndrome D007926

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 104-124 DiseaseClass denotes Lesch-Nyhan syndrome
T2 183-196 SpecificDisease denotes hyperuricemia
T3 395-415 DiseaseClass denotes Lesch-Nyhan syndrome
T4 485-498 SpecificDisease denotes hyperuricemia
T5 985-1005 DiseaseClass denotes Lesch-Nyhan syndrome
T6 1431-1871 DiseaseClass denotes Lesch-Nyhan cells was inhibited and normal cells grew normally. Similarly in 8-azaguanine, 6-thioguanine, and 8-azahypoxanthine, the growth of the patient's cells was intermediate between normal and Lesch-Nyhan cells. These observations provide further evidence for genetic heterogeneity among patients with disorders in purine metabolism involving the HPRT gene. They document that this famous patient did not have the Lesch-Nyhan syndrome

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 104-124 DiseaseClass denotes Lesch-Nyhan syndrome
T2 183-196 SpecificDisease denotes hyperuricemia
T3 395-415 DiseaseClass denotes Lesch-Nyhan syndrome
T4 485-498 SpecificDisease denotes hyperuricemia
T5 985-1005 DiseaseClass denotes Lesch-Nyhan syndrome
T6 1431-1871 DiseaseClass denotes Lesch-Nyhan cells was inhibited and normal cells grew normally. Similarly in 8-azaguanine, 6-thioguanine, and 8-azahypoxanthine, the growth of the patient's cells was intermediate between normal and Lesch-Nyhan cells. These observations provide further evidence for genetic heterogeneity among patients with disorders in purine metabolism involving the HPRT gene. They document that this famous patient did not have the Lesch-Nyhan syndrome

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 104-124 SpecificDisease denotes Lesch-Nyhan syndrome
T2 183-196 SpecificDisease denotes hyperuricemia
T3 395-415 SpecificDisease denotes Lesch-Nyhan syndrome
T4 485-498 SpecificDisease denotes hyperuricemia
T5 985-1005 SpecificDisease denotes Lesch-Nyhan syndrome
T6 1431-1442 SpecificDisease denotes Lesch-Nyhan
T7 1630-1641 SpecificDisease denotes Lesch-Nyhan
T8 1851-1871 SpecificDisease denotes Lesch-Nyhan syndrome

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 104-124 SpecificDisease denotes Lesch-Nyhan syndrome
T2 183-232 DiseaseClass denotes hyperuricemia and central nervous system symptoms
T3 395-415 SpecificDisease denotes Lesch-Nyhan syndrome
T4 433-498 CompositeMention denotes chroeoathetosis, spasticity, dysarthric speech, and hyperuricemia
T5 985-1005 SpecificDisease denotes Lesch-Nyhan syndrome
T6 1431-1871 SpecificDisease denotes Lesch-Nyhan cells was inhibited and normal cells grew normally. Similarly in 8-azaguanine, 6-thioguanine, and 8-azahypoxanthine, the growth of the patient's cells was intermediate between normal and Lesch-Nyhan cells. These observations provide further evidence for genetic heterogeneity among patients with disorders in purine metabolism involving the HPRT gene. They document that this famous patient did not have the Lesch-Nyhan syndrome