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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-253 Sentence denotes Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
T1 0-253 Sentence denotes Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
TextSentencer_T2 254-422 Sentence denotes X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2).
T2 254-422 Sentence denotes X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2).
TextSentencer_T3 423-548 Sentence denotes All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C.
T3 423-548 Sentence denotes All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C.
TextSentencer_T4 549-600 Sentence denotes All probands were clinically pyridoxine-responsive.
T4 549-600 Sentence denotes All probands were clinically pyridoxine-responsive.
TextSentencer_T5 601-731 Sentence denotes The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather.
T5 601-731 Sentence denotes The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather.
TextSentencer_T6 732-1011 Sentence denotes There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder.
T6 732-1011 Sentence denotes There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder.
TextSentencer_T7 1012-1104 Sentence denotes One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote.
T7 1012-1104 Sentence denotes One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote.
TextSentencer_T8 1105-1229 Sentence denotes The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness.
T8 1105-1229 Sentence denotes The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness.
TextSentencer_T9 1230-1383 Sentence denotes Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation.
T9 1230-1383 Sentence denotes Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation.
TextSentencer_T10 1384-1483 Sentence denotes The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine.
T10 1384-1483 Sentence denotes The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine.
TextSentencer_T11 1484-1683 Sentence denotes These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia.
T11 1484-1683 Sentence denotes These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia.