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.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
3.
Characterization of lipoproteins and associated lipidome in very preterm infants: a pilot study.
Pediatr Res
; 93(4): 938-947, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35739258
4.
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
5.
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
6.
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
7.
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Mov Disord
; 36(8): 1959-1964, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949708
8.
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Genet Med
; 22(3): 610-621, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31761904
9.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Mol Genet Metab
; 131(3): 285-288, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004274
10.
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Mol Genet Metab
; 130(2): 110-117, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32273051
11.
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
12.
Long term outcome of MPI-CDG patients on D-mannose therapy.
J Inherit Metab Dis
; 43(6): 1360-1369, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098580
13.
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
J Inherit Metab Dis
; 43(5): 1024-1036, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32160317
14.
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
J Inherit Metab Dis
; 41(1): 129-139, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28924877
15.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Brain
; 140(10): 2597-2609, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969387
16.
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
J Inherit Metab Dis
; 39(1): 3-16, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26541327
17.
Maternal and cord blood LC-HRMS metabolomics reveal alterations in energy and polyamine metabolism, and oxidative stress in very-low birth weight infants.
J Proteome Res
; 12(6): 2764-78, 2013 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23527880
18.
Virus or Bacteria: Is It the Only Cause of Sepsis-Induced Rhabdomyolysis?
Pediatr Crit Care Med
; 19(7): 694, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29985298
19.
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Am J Hum Genet
; 84(1): 44-51, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19118815
20.
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.
J Inherit Metab Dis
; 35(6): 975-81, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22388642