Detalhe da pesquisa
1.
Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.
Blood
; 136(21): 2457-2468, 2020 11 19.
Artigo
Inglês
| MEDLINE | ID: mdl-32678895
2.
Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.
Biol Blood Marrow Transplant
; 26(4): 704-711, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31843562
3.
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Hum Mol Genet
; 26(8): 1565-1576, 2017 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28334762
4.
Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).
Biochem Biophys Res Commun
; 520(2): 297-303, 2019 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31601421
5.
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
Haematologica
; 103(11): 1796-1805, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30002125
6.
Acquired glucose 6-phosphate dehydrogenase (G6PD) deficiency in a patient with Chronic Myelomonocytic Leukemia.
Br J Haematol
; 197(4): e45-e48, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34989400
7.
Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.
Haematologica
; 102(2): 260-270, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28143953
8.
Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.
Am J Med Genet A
; 173(9): 2511-2516, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28688171
9.
Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.
Am J Hematol
; 97(11): E393-E395, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36052950
10.
Efficacy of pembrolizumab in a patient with xeroderma pigmentosum variant and advanced cutaneous squamous-cell carcinoma.
Acta Oncol
; 61(9): 1140-1142, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35950634
11.
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Hum Mol Genet
; 23(17): 4479-90, 2014 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24714983
12.
Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.
Haematologica
; 106(3): 913-917, 2021 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31919078
13.
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
Proc Natl Acad Sci U S A
; 110(45): 18238-43, 2013 Nov 05.
Artigo
Inglês
| MEDLINE | ID: mdl-24145442
14.
Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.
Am J Hum Genet
; 91(1): 109-21, 2012 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22795135
15.
Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.
Life (Basel)
; 14(1)2024 Jan 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38255745
16.
Loss of epidermal hypoxia-inducible factor-1α accelerates epidermal aging and affects re-epithelialization in human and mouse.
J Cell Sci
; 124(Pt 24): 4172-83, 2011 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22193962
17.
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
Blood
; 118(6): 1443-51, 2011 Aug 11.
Artigo
Inglês
| MEDLINE | ID: mdl-21653323
18.
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.
J Pediatr Hematol Oncol
; 35(4): e167-70, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23612387
19.
Hypoxia-inducible factor-1alpha regulates the expression of nucleotide excision repair proteins in keratinocytes.
Nucleic Acids Res
; 38(3): 797-809, 2010 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19934262
20.
[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France]. / Recommandations pour la (bonne) pratique du diagnostic moléculaire de l'hémochromatose liée au gène HFE. Synthesed'une enquete realisee aupres du reseau national des laboratoires pratiquant le disgnostic de maladies rares du metabolisme du fer.
Ann Biol Clin (Paris)
; 70(3): 305-13, 2012.
Artigo
Francês
| MEDLINE | ID: mdl-22565179