A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort
CONCLUSIONS: Long-term efficacy and safety results in the Taiwan cohort are consistent with those in the global cohort.PMID:38044204 | DOI:10.1016/j.jfma.2023.10.016 (Source: J Formos Med Assoc)
Source: J Formos Med Assoc - December 3, 2023 Category: General Medicine Authors: Ming-Jen Lee Hung-Chou Kuo Lin-Na Chou Marianne T Sweetser Jiaan-Der Wang Source Type: research
A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort
CONCLUSIONS: Long-term efficacy and safety results in the Taiwan cohort are consistent with those in the global cohort.PMID:38044204 | DOI:10.1016/j.jfma.2023.10.016 (Source: J Formos Med Assoc)
Source: J Formos Med Assoc - December 3, 2023 Category: General Medicine Authors: Ming-Jen Lee Hung-Chou Kuo Lin-Na Chou Marianne T Sweetser Jiaan-Der Wang Source Type: research
A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort
CONCLUSIONS: Long-term efficacy and safety results in the Taiwan cohort are consistent with those in the global cohort.PMID:38044204 | DOI:10.1016/j.jfma.2023.10.016 (Source: J Formos Med Assoc)
Source: J Formos Med Assoc - December 3, 2023 Category: General Medicine Authors: Ming-Jen Lee Hung-Chou Kuo Lin-Na Chou Marianne T Sweetser Jiaan-Der Wang Source Type: research
A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort
CONCLUSIONS: Long-term efficacy and safety results in the Taiwan cohort are consistent with those in the global cohort.PMID:38044204 | DOI:10.1016/j.jfma.2023.10.016 (Source: J Formos Med Assoc)
Source: J Formos Med Assoc - December 3, 2023 Category: General Medicine Authors: Ming-Jen Lee Hung-Chou Kuo Lin-Na Chou Marianne T Sweetser Jiaan-Der Wang Source Type: research
A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort
CONCLUSIONS: Long-term efficacy and safety results in the Taiwan cohort are consistent with those in the global cohort.PMID:38044204 | DOI:10.1016/j.jfma.2023.10.016 (Source: J Formos Med Assoc)
Source: J Formos Med Assoc - December 3, 2023 Category: General Medicine Authors: Ming-Jen Lee Hung-Chou Kuo Lin-Na Chou Marianne T Sweetser Jiaan-Der Wang Source Type: research
Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene
Conclusion: We have made a pioneering attempt to apply minigene in vitro validation to the HMBS gene to evaluate the splicing effect of eight variants, including a novel splice variant (c.160 + 5G>C). This study provides a molecular basis for future research on the pathogenesis and gene therapy of AIP. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - November 20, 2023 Category: Genetics & Stem Cells Source Type: research
The Hepatic Porphyrias: Revealing the Complexities of a Rare Disease
Semin Liver Dis DOI: 10.1055/s-0043-1776760 The porphyrias are a group of metabolic disorders that are caused by defects in heme biosynthesis pathway enzymes. The result is accumulation of heme precursors, which can cause neurovisceral and/or cutaneous photosensitivity. Liver is commonly either a source or target of excess porphyrins, and porphyria-associated hepatic dysfunction ranges from minor abnormalities to liver failure. In this review, the first of a three-part series, we describe the defects commonly found in each of the eight enzymes involved in heme biosynthesis. We also discuss the pathophysiology of the hepati...
Source: Seminars in Liver Disease - November 16, 2023 Category: Gastroenterology Authors: Balogun, Oluwashanu Nejak-Bowen, Kari Tags: Review Article Source Type: research
Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report
ConclusionThis case report aims to raise awareness among healthcare professionals about the uncommon and atypical presentation of CEP and its management options. (Source: Journal of Medical Case Reports)
Source: Journal of Medical Case Reports - November 14, 2023 Category: General Medicine Source Type: research
Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review
Blood Cells Mol Dis. 2023 Nov 5;104:102801. doi: 10.1016/j.bcmd.2023.102801. Online ahead of print.ABSTRACTSeveral syndromes affecting the red cell that mimic those induced by germline mutations may result from a somatic mutation that accompanies a myeloid malignancy. These syndromes are most notable in cases of myelodysplastic syndrome, but they are not limited to any one category of myeloid neoplasm. Their occurrence in males exceed the male predominance that is evident in myeloid neoplasms. The syndromes include disorders of globin chain synthesis (α- and β-thalassemia), heme synthesis (erythropoietic porphyria and er...
Source: Blood Cells, Molecules and Diseases - November 11, 2023 Category: Hematology Authors: Marshall A Lichtman Source Type: research
Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review
Blood Cells Mol Dis. 2023 Nov 5;104:102801. doi: 10.1016/j.bcmd.2023.102801. Online ahead of print.ABSTRACTSeveral syndromes affecting the red cell that mimic those induced by germline mutations may result from a somatic mutation that accompanies a myeloid malignancy. These syndromes are most notable in cases of myelodysplastic syndrome, but they are not limited to any one category of myeloid neoplasm. Their occurrence in males exceed the male predominance that is evident in myeloid neoplasms. The syndromes include disorders of globin chain synthesis (α- and β-thalassemia), heme synthesis (erythropoietic porphyria and er...
Source: Blood Cells, Molecules and Diseases - November 11, 2023 Category: Hematology Authors: Marshall A Lichtman Source Type: research
Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review
Blood Cells Mol Dis. 2023 Nov 5;104:102801. doi: 10.1016/j.bcmd.2023.102801. Online ahead of print.ABSTRACTSeveral syndromes affecting the red cell that mimic those induced by germline mutations may result from a somatic mutation that accompanies a myeloid malignancy. These syndromes are most notable in cases of myelodysplastic syndrome, but they are not limited to any one category of myeloid neoplasm. Their occurrence in males exceed the male predominance that is evident in myeloid neoplasms. The syndromes include disorders of globin chain synthesis (α- and β-thalassemia), heme synthesis (erythropoietic porphyria and er...
Source: Blood Cells, Molecules and Diseases - November 11, 2023 Category: Hematology Authors: Marshall A Lichtman Source Type: research
Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review
Blood Cells Mol Dis. 2023 Nov 5;104:102801. doi: 10.1016/j.bcmd.2023.102801. Online ahead of print.ABSTRACTSeveral syndromes affecting the red cell that mimic those induced by germline mutations may result from a somatic mutation that accompanies a myeloid malignancy. These syndromes are most notable in cases of myelodysplastic syndrome, but they are not limited to any one category of myeloid neoplasm. Their occurrence in males exceed the male predominance that is evident in myeloid neoplasms. The syndromes include disorders of globin chain synthesis (α- and β-thalassemia), heme synthesis (erythropoietic porphyria and er...
Source: Blood Cells, Molecules and Diseases - November 11, 2023 Category: Hematology Authors: Marshall A Lichtman Source Type: research
Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review
Blood Cells Mol Dis. 2023 Nov 5;104:102801. doi: 10.1016/j.bcmd.2023.102801. Online ahead of print.ABSTRACTSeveral syndromes affecting the red cell that mimic those induced by germline mutations may result from a somatic mutation that accompanies a myeloid malignancy. These syndromes are most notable in cases of myelodysplastic syndrome, but they are not limited to any one category of myeloid neoplasm. Their occurrence in males exceed the male predominance that is evident in myeloid neoplasms. The syndromes include disorders of globin chain synthesis (α- and β-thalassemia), heme synthesis (erythropoietic porphyria and er...
Source: Blood Cells, Molecules and Diseases - November 11, 2023 Category: Hematology Authors: Marshall A Lichtman Source Type: research
Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review
Blood Cells Mol Dis. 2023 Nov 5;104:102801. doi: 10.1016/j.bcmd.2023.102801. Online ahead of print.ABSTRACTSeveral syndromes affecting the red cell that mimic those induced by germline mutations may result from a somatic mutation that accompanies a myeloid malignancy. These syndromes are most notable in cases of myelodysplastic syndrome, but they are not limited to any one category of myeloid neoplasm. Their occurrence in males exceed the male predominance that is evident in myeloid neoplasms. The syndromes include disorders of globin chain synthesis (α- and β-thalassemia), heme synthesis (erythropoietic porphyria and er...
Source: Blood Cells, Molecules and Diseases - November 11, 2023 Category: Hematology Authors: Marshall A Lichtman Source Type: research
Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review
Blood Cells Mol Dis. 2023 Nov 5;104:102801. doi: 10.1016/j.bcmd.2023.102801. Online ahead of print.ABSTRACTSeveral syndromes affecting the red cell that mimic those induced by germline mutations may result from a somatic mutation that accompanies a myeloid malignancy. These syndromes are most notable in cases of myelodysplastic syndrome, but they are not limited to any one category of myeloid neoplasm. Their occurrence in males exceed the male predominance that is evident in myeloid neoplasms. The syndromes include disorders of globin chain synthesis (α- and β-thalassemia), heme synthesis (erythropoietic porphyria and er...
Source: Blood Cells, Molecules and Diseases - November 11, 2023 Category: Hematology Authors: Marshall A Lichtman Source Type: research
