Detalhe da pesquisa
1.
Management of phenylketonuria in European PKU centres remains heterogeneous.
Mol Genet Metab
; 141(1): 108120, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38159545
2.
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.
Mol Genet Metab
; 141(1): 108114, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142628
3.
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease.
J Inherit Metab Dis
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623626
4.
Belimumab corticosteroid-sparing treatment in systemic lupus erythematosus: a real-life observational study (BESST study).
Rheumatol Int
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38687385
5.
Homocysteine and methylmalonic acid in Phenylketonuria patients.
Genet Mol Biol
; 46(3 Suppl 1): e20230103, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38591937
6.
Immune checkpoint inhibitor-associated capillary leak syndrome: A systematic review and a worldwide pharmacovigilance study.
J Intern Med
; 294(1): 58-68, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038359
7.
Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients - A nationwide study of health insurance claims data.
Mol Genet Metab
; 139(3): 107625, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37329624
8.
Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.
Mol Genet Metab
; 140(3): 107704, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37812967
9.
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.
Mol Genet Metab
; 140(4): 107733, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979236
10.
Impact of gender on baseline presentation and outcome in adult IgA vasculitis.
Rheumatology (Oxford)
; 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38048626
11.
New insights into epidemiological data and impact of the COVID-19 pandemic on IgA vasculitis in children and adults: a French nationwide cohort.
Rheumatol Int
; 43(10): 1791-1798, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37438546
12.
What is the impact of blood pressure on neurological symptoms and the risk of ESKD in primary and secondary thrombotic microangiopathies based on clinical presentation: a retrospective study.
BMC Nephrol
; 23(1): 39, 2022 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35057750
13.
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
J Pediatr
; 239: 231-234.e2, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34474089
14.
Impact of aging on phenotype and prognosis in IgA vasculitis.
Rheumatology (Oxford)
; 60(9): 4245-4251, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410479
15.
Quality consideration for the validation of urine TMA and TMAO measurement by nuclear magnetic resonance spectroscopy in Fish Odor Syndrome.
Anal Biochem
; 630: 114330, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34364856
16.
Neonatal Fc receptor expression in lymphoid and myeloid cells in systemic lupus erythematosus.
Lupus
; 30(12): 1938-1945, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34634960
17.
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
J Inherit Metab Dis
; 44(5): 1199-1214, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014557
18.
Dual Ureaplasma parvum arthritis: a case report of U. parvum septic arthritis following contralateral reactive arthritis in an immunosuppressed patient.
BMC Infect Dis
; 21(1): 1117, 2021 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715803
19.
Gastrointestinal involvement in adult IgA vasculitis (Henoch-Schönlein purpura): updated picture from a French multicentre and retrospective series of 260 cases.
Rheumatology (Oxford)
; 59(10): 3050-3057, 2020 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32211770
20.
Tryptophan metabolism in phenylketonuria: A French adult cohort study.
J Inherit Metab Dis
; 43(5): 944-951, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392388