Detalhe da pesquisa
1.
From chemistry to genomics: A concise history of the porphyrias.
Liver Int
; 2024 May 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38767598
2.
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
Am J Hum Genet
; 83(3): 408-14, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18760763
3.
European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program.
Clin Chem
; 57(11): 1514-23, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21937752
4.
Complex gene-chemical interactions: hepatic uroporphyria as a paradigm.
Chem Res Toxicol
; 23(4): 712-23, 2010 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-20099833
5.
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
Clin Chem
; 55(7): 1406-14, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19460837
6.
Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy.
Nat Clin Pract Neurol
; 4(12): 648-9, 2008 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19002132
7.
Liver transplantation as a cure for acute intermittent porphyria.
Lancet
; 363(9410): 705-6, 2004 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-15001330
8.
Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria.
Biochem J
; 377(Pt 2): 281-7, 2004 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-14535846
9.
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
J Invest Dermatol
; 129(3): 599-605, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18787536
10.
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria.
Blood
; 110(12): 4108-10, 2007 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-17804693
11.
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
J Invest Dermatol
; 127(12): 2790-4, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17597821
12.
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells.
Blood
; 107(1): 60-2, 2006 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16150949
13.
Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria.
J Invest Dermatol
; 131(5): 1172-5, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21326293
14.
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.
Cell Mol Biol (Noisy-le-grand)
; 48(1): 79-82, 2002 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-11929051
15.
Uroporphyria caused by ethanol in Hfe(-/-) mice as a model for porphyria cutanea tarda.
Hepatology
; 37(2): 351-8, 2003 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-12540785
16.
Genetic factors influence ethanol-induced uroporphyria in Hfe(-/-) mice.
Hepatology
; 40(4): 942-50, 2004 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-15382179
17.
Diagnosing acute porphyrias.
Clin Chem
; 50(5): 803-5, 2004 May.
Artigo
Inglês
| MEDLINE | ID: mdl-15105348