Detalhe da pesquisa
1.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Am J Hum Genet
; 110(10): 1769-1786, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37729906
2.
Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.
J Inherit Metab Dis
; 46(2): 286-299, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36546345
3.
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients.
J Inherit Metab Dis
; 46(6): 1186-1194, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650859
4.
Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
J Intern Med
; 291(6): 824-836, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35112415
5.
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Genet Med
; 21(11): 2605-2613, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31073229
6.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
bioRxiv
; 2023 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798224
7.
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
Dis Markers
; 19(1): 41-6, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14757946
8.
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
Orphanet J Rare Dis
; 8: 13, 2013 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23324528
9.
Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks.
Eur J Intern Med
; 20(2): 201-7, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19327613
10.
Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion.
Clin Chem
; 52(4): 701-7, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16497943
11.
A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
J Dermatol Sci
; 61(1): 75-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21111578
12.
The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden.
Acta Derm Venereol
; 85(2): 164-6, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15823914
13.
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
J Hum Genet
; 48(2): 70-6, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12601550
14.
Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.
J Hum Genet
; 47(8): 407-12, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12181641