Detalhe da pesquisa
1.
Quantification of Urine and Plasma Porphyrin Precursors Using LC-MS in Acute Hepatic Porphyrias: Improvement in Routine Diagnosis and in the Monitoring of Kidney Failure Patients.
Clin Chem
; 69(10): 1186-1196, 2023 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37608428
2.
Givosiran in acute intermittent porphyria: A personalized medicine approach.
Mol Genet Metab
; 135(3): 206-214, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35058124
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
Inglês
| MEDLINE | ID: mdl-31512765
4.
Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria.
Mol Genet Metab
; 131(1-2): 259-266, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32893121
5.
Correction to: Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.
Metabolomics
; 14(3): 21, 2018 01 30.
Artigo
Inglês
| MEDLINE | ID: mdl-30830333
6.
A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.
J Am Soc Nephrol
; 28(6): 1924-1932, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28031405
7.
Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopy.
Anal Chem
; 86(4): 2166-74, 2014 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-24437734
8.
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report.
Mol Genet Metab Rep
; 37: 101018, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38053924
9.
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Hum Mutat
; 32(6): 590-7, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21309041
10.
Hepcidin and Iron Deficiency in Women One Year after Sleeve Gastrectomy: A Prospective Cohort Study.
Nutrients
; 13(8)2021 Jul 23.
Artigo
Inglês
| MEDLINE | ID: mdl-34444676
11.
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.
Metabolomics
; 14(1): 10, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29416446