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.
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Hepatology
; 71(5): 1546-1558, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31512765
3.
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
Inglês
| MEDLINE | ID: mdl-31073229
4.
Update review of the acute porphyrias.
Br J Haematol
; 176(4): 527-538, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27982422
5.
Bovine congenital erythropoietic protoporphyria in a crossbred limousin heifer in Ireland.
Ir Vet J
; 68(1): 15, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26140209
6.
The incidence of inherited porphyrias in Europe.
J Inherit Metab Dis
; 36(5): 849-57, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23114748
7.
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
9.
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
10.
Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria.
Clin Chem
; 59(7): 1123-5, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23609978
11.
Retracing an old journey in variegate porphyria.
Br J Dermatol
; 166(2): 237, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22268855
12.
Best practice guidelines on first-line laboratory testing for porphyria.
Ann Clin Biochem
; 54(2): 188-198, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27555665
13.
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom.
JIMD Rep
; 36: 99-107, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28220410
14.
Exonic deletions as a cause of erythropoietic protoporphyria.
Ann Clin Biochem
; 43(Pt 3): 229-32, 2006 May.
Artigo
Inglês
| MEDLINE | ID: mdl-16704762
15.
Liver transplantation as a cure for acute intermittent porphyria.
Lancet
; 363(9410): 705-6, 2004 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-15001330
16.
Pregnancy in a patient with congenital erythropoietic porphyria.
N Engl J Med
; 357(6): 622-3, 2007 Aug 09.
Artigo
Inglês
| MEDLINE | ID: mdl-17687144
17.
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms.
JIMD Rep
; 22: 57-65, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25762493
18.
The cutaneous porphyrias.
Dermatol Clin
; 32(3): 369-84, ix, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24891059
19.
Symptomatic response of erythropoietic protoporphyria to iron supplementation.
J Am Acad Dermatol
; 56(6): 1070-2, 2007 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-17504727
20.
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