Detalhe da pesquisa
1.
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
N Engl J Med
; 382(24): 2289-2301, 2020 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32521132
2.
Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria.
Nucleic Acids Res
; 48(9): 4658-4671, 2020 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313951
3.
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Hepatology
; 71(5): 1546-1558, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512765
4.
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
Mol Genet Metab
; 128(3): 304-308, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31076252
5.
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Scand J Clin Lab Invest
; 79(5): 305-313, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31154864
6.
[Porphyria - when to think about how to clarify and treat?] / Porphyrien wann daran denken, wie abklären und behandeln?
Ther Umsch
; 75(4): 225-233, 2018 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-30468116
7.
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
J Inherit Metab Dis
; 40(3): 433-441, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28185024
8.
Reference intervals for 24 laboratory parameters determined in 24-hour urine collections.
Clin Chem Lab Med
; 54(1): 105-16, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26053007
9.
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Hum Mol Genet
; 22(7): 1280-8, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23263862
10.
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
J Hepatol
; 62(3): 734-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25445397
11.
In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability.
Blood Cells Mol Dis
; 54(1): 71-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25179834
12.
Evaluation of the immunogenicity of the synthetic α-melanocyte-stimulating hormone (α-MSH) analogue afamelanotide ([Nle4-D-Phe7]-α-MSH, Scenesse®) in erythropoietic protoporphyria patients by ELISA detecting both anti-afamelanotide and anti-α-MSH antibodies.
Skin Pharmacol Physiol
; 28(2): 103-13, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25402764
13.
Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).
Blood Cells Mol Dis
; 51(3): 151-61, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23787363
14.
Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria.
Life (Basel)
; 13(4)2023 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37109595
15.
First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
Life (Basel)
; 13(9)2023 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37763293
16.
Iron and erythropoietic porphyrias.
Blood
; 126(2): 130-2, 2015 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26160187
17.
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
Blood
; 115(5): 1062-9, 2010 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19965637
18.
Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy.
Front Genet
; 13: 993453, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36386813
19.
Effects of different centrifugation conditions on clinical chemistry and Immunology test results.
BMC Clin Pathol
; 11: 6, 2011 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21569233
20.
Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study.
Ther Adv Rare Dis
; 2: 26330040211065453, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181106