Detalhe da pesquisa
1.
Givosiran in acute intermittent porphyria: A personalized medicine approach.
Mol Genet Metab
; 135(3): 206-214, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35058124
2.
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Int J Mol Sci
; 22(2)2021 Jan 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33445488
3.
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.
Blood Cells Mol Dis
; 61: 48-53, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27667166
4.
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 164A(1): 190-3, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24243641
5.
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Eur J Dermatol
; 30(5): 532-540, 2020 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33021473