Detalhe da pesquisa
1.
Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
J Inherit Metab Dis
; 47(1): 41-49, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36880392
2.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; 31(7): e16275, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
3.
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
Nature
; 560(7717): 238-242, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30046113
4.
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
J Clin Immunol
; 43(6): 1436-1447, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171742
5.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
6.
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Mol Genet Metab
; 139(4): 107650, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454519
7.
A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.
J Pediatr
; 254: 75-82.e4, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265573
8.
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
J Pediatr
; 254: 39-47.e4, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265570
9.
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients.
J Inherit Metab Dis
; 46(4): 649-661, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680547
10.
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Eur J Neurol
; 30(9): 2828-2837, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37235686
11.
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
J Med Genet
; 59(2): 204-208, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199448
12.
Methionine supplementation for multi-organ dysfunction in MetRS-related pulmonary alveolar proteinosis.
Eur Respir J
; 59(4)2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34503986
13.
What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children.
Mol Genet Metab
; 135(4): 320-326, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35221207
14.
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
J Pediatr
; 242: 192-200.e3, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788681
15.
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
J Inherit Metab Dis
; 45(5): 937-951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35618652
16.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
J Inherit Metab Dis
; 45(4): 848-861, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460084
17.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358327
18.
Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up.
Doc Ophthalmol
; 144(1): 53-65, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491492
19.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genet Med
; 23(9): 1604-1615, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040193
20.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33149277