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
em Inglês
| MEDLINE | ID: mdl-36265570
2.
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.
J Inherit Metab Dis
; 46(5): 848-873, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37530674
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
em Inglês
| MEDLINE | ID: mdl-37235686
4.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
5.
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
6.
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
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
em Inglês
| MEDLINE | ID: mdl-32145964
8.
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
Clin Genet
; 96(2): 107-117, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941742
9.
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Biochim Biophys Acta Mol Basis Dis
; 1863(12): 3294-3302, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888424
10.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
J Inherit Metab Dis
; 40(3): 415-422, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255778
11.
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.
J Inherit Metab Dis
; 35(6): 993-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22669364
12.
Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled study.
J Pediatr
; 159(5): 838-844.e1, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21658716
13.
Tyrosinemia type 1 in pediatric nephrology: Not always straightforward.
Arch Pediatr
; 28(4): 338-341, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33858731
14.
Neurological manifestations in adults with phenylketonuria: new cases and review of the literature.
J Neurol
; 267(2): 531-542, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701331
15.
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
EBioMedicine
; 51: 102623, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923802
16.
Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years.
J Pediatr
; 154(5): 733-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19167723
17.
A rare late progression form of Sly syndrome mucopolysaccharidosis.
JIMD Rep
; 49(1): 1-6, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497474
18.
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire.
Orphanet J Rare Dis
; 14(1): 284, 2019 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31801581
19.
Improving diagnosis of mitochondrial fatty-acid oxidation disorders.
Eur J Hum Genet
; 31(3): 265-272, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599942
20.
Influenza burden in febrile infants and young children in a pediatric emergency department.
Pediatr Infect Dis J
; 26(2): 142-7, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17259877