一名患有先天性红细胞生成性卟啉症的泰国女童患者尿卟啉原III合酶基因突变的鉴定。 - Suppr

Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.

作者信息

Glomglao W, Treesucon A, Roothumnong E, Thongnoppakhun W, Siraprapapat P, Suwanthol L, Sanpakit K, Tanphaichitr V S

机构信息

Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Int J Lab Hematol. 2015 Apr;37(2):e44-7. doi: 10.1111/ijlh.12282. Epub 2014 Aug 5.

DOI:10.1111/ijlh.12282

PMID:25092523

Abstract

摘要

相似文献

Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.

Int J Lab Hematol. 2015 Apr;37(2):e44-7. doi: 10.1111/ijlh.12282. Epub 2014 Aug 5.

Severe neonatal congenital erythropoietic porphyria.

Pediatr Dermatol. 2011 Jul-Aug;28(4):416-20. doi: 10.1111/j.1525-1470.2010.01376.x. Epub 2011 Mar 1.

Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis.

Prenat Diagn. 1996 Jan;16(1):83-6. doi: 10.1002/(SICI)1097-0223(199601)16:1<83::AID-PD812>3.0.CO;2-4.

Molecular genetics of congenital erythropoietic porphyria.

Semin Liver Dis. 1998;18(1):77-84. doi: 10.1055/s-2007-1007143.

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.

Clin Pediatr (Phila). 2023 Jun;62(5):399-403. doi: 10.1177/00099228221128661. Epub 2022 Oct 11.

Congenital erythropoietic porphyria, description of a new mutation in two brothers.

Eur J Pediatr. 1997 Oct;156(10):817-8.

Congenital erythropoietic porphyria: advances in pathogenesis and treatment.

Br J Haematol. 2002 Jun;117(4):779-95. doi: 10.1046/j.1365-2141.2002.03557.x.

[Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft].

Ann Dermatol Venereol. 2010 Oct;137(10):635-9. doi: 10.1016/j.annder.2010.06.018. Epub 2010 Aug 13.

Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.

Blood. 1998 Dec 1;92(11):4053-8.

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.

Br J Haematol. 2002 Jun;117(4):980-7. doi: 10.1046/j.1365-2141.2002.03558.x.

引用本文的文献

The Hepatic Porphyrias: Revealing the Complexities of a Rare Disease.

Semin Liver Dis. 2023 Nov;43(4):446-459. doi: 10.1055/s-0043-1776760. Epub 2023 Nov 16.

[Congenital erythropoietic porphyria : An update].

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Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.

作者信息

Glomglao W, Treesucon A, Roothumnong E, Thongnoppakhun W, Siraprapapat P, Suwanthol L, Sanpakit K, Tanphaichitr V S

机构信息

Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Int J Lab Hematol. 2015 Apr;37(2):e44-7. doi: 10.1111/ijlh.12282. Epub 2014 Aug 5.

DOI:10.1111/ijlh.12282

PMID:25092523

Abstract

摘要

相似文献

Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.

Int J Lab Hematol. 2015 Apr;37(2):e44-7. doi: 10.1111/ijlh.12282. Epub 2014 Aug 5.

Severe neonatal congenital erythropoietic porphyria.

Pediatr Dermatol. 2011 Jul-Aug;28(4):416-20. doi: 10.1111/j.1525-1470.2010.01376.x. Epub 2011 Mar 1.

Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis.

Prenat Diagn. 1996 Jan;16(1):83-6. doi: 10.1002/(SICI)1097-0223(199601)16:1<83::AID-PD812>3.0.CO;2-4.

Molecular genetics of congenital erythropoietic porphyria.

Semin Liver Dis. 1998;18(1):77-84. doi: 10.1055/s-2007-1007143.

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.

Clin Pediatr (Phila). 2023 Jun;62(5):399-403. doi: 10.1177/00099228221128661. Epub 2022 Oct 11.

Congenital erythropoietic porphyria, description of a new mutation in two brothers.

Eur J Pediatr. 1997 Oct;156(10):817-8.

Congenital erythropoietic porphyria: advances in pathogenesis and treatment.

Br J Haematol. 2002 Jun;117(4):779-95. doi: 10.1046/j.1365-2141.2002.03557.x.

[Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft].

Ann Dermatol Venereol. 2010 Oct;137(10):635-9. doi: 10.1016/j.annder.2010.06.018. Epub 2010 Aug 13.

Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.

Blood. 1998 Dec 1;92(11):4053-8.

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.

Br J Haematol. 2002 Jun;117(4):980-7. doi: 10.1046/j.1365-2141.2002.03558.x.

引用本文的文献

The Hepatic Porphyrias: Revealing the Complexities of a Rare Disease.

Semin Liver Dis. 2023 Nov;43(4):446-459. doi: 10.1055/s-0043-1776760. Epub 2023 Nov 16.

[Congenital erythropoietic porphyria : An update].

Hautarzt. 2016 Mar;67(3):216-20. doi: 10.1007/s00105-015-3732-8.

Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.

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Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.

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机构信息

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