Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-36265570
2.
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
Inglês
| MEDLINE | ID: mdl-36680547
3.
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
Inglês
| MEDLINE | ID: mdl-37235686
4.
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
Inglês
| MEDLINE | ID: mdl-34788681
5.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35358327
6.
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Genet Med
; 22(3): 610-621, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31761904
7.
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
J Pediatr
; 220: 184-192.e6, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32145964
8.
Long term outcome of MPI-CDG patients on D-mannose therapy.
J Inherit Metab Dis
; 43(6): 1360-1369, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33098580
9.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30773687
10.
First-line Screening of OXPHOS Deficiencies Using Microscale Oxygraphy in Human Skin Fibroblasts: A Preliminary Study.
Int J Med Sci
; 16(7): 931-938, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31341406
11.
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
Mol Genet Metab
; 121(2): 111-118, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28396157
12.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
J Inherit Metab Dis
; 40(3): 415-422, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28255778
13.
Comparison of fluid balance and hemodynamic and metabolic effects of sodium lactate versus sodium bicarbonate versus 0.9% NaCl in porcine endotoxic shock: a randomized, open-label, controlled study.
Crit Care
; 21(1): 113, 2017 May 19.
Artigo
Inglês
| MEDLINE | ID: mdl-28526086
14.
[Newborn screening in France: news and perspectives]. / Le dépistage néonatal en France : actualités et perspectives.
Ann Biol Clin (Paris)
; 82(1): 24-31, 2024 04 19.
Artigo
Francês
| MEDLINE | ID: mdl-38638016
15.
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Front Genet
; 15: 1352006, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38348452
16.
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Biomed Pharmacother
; 163: 114813, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37150031
17.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Nat Commun
; 14(1): 1009, 2023 02 23.
Artigo
Inglês
| MEDLINE | ID: mdl-36823193
18.
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
J Inherit Metab Dis
; 35(5): 823-9, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22167277
19.
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.
J Inherit Metab Dis
; 35(6): 993-9, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22669364
20.
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Mol Genet Metab Rep
; 31: 100860, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35782617