Detalhe da pesquisa
1.
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Mol Genet Metab
; 141(3): 108123, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219674
2.
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
3.
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
4.
Factors associated with anaemia among preschool- age children in underprivileged neighbourhoods in Antananarivo, Madagascar.
BMC Public Health
; 22(1): 1320, 2022 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35810292
5.
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
J Inherit Metab Dis
; 44(5): 1235-1247, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014569
6.
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
J Inherit Metab Dis
; 44(2): 415-425, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929747
7.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28757203
8.
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
9.
Central nervous system complications in adult cystinosis patients.
J Inherit Metab Dis
; 43(2): 348-356, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444911
10.
Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience.
J Inherit Metab Dis
; 43(2): 234-243, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31525265
11.
5-Fluorouracil rechallenge after 5-fluorouracil-induced hyperammonemic encephalopathy.
Anticancer Drugs
; 30(3): 313-317, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531368
12.
Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France.
BJU Int
; 124(5): 849-861, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801923
13.
Autism spectrum disorders in propionic acidemia patients.
J Inherit Metab Dis
; 41(4): 623-629, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856627
14.
Evolution of Newborns' Urinary Metabolomic Profiles According to Age and Growth.
J Proteome Res
; 16(10): 3732-3740, 2017 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28791867
15.
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
J Inherit Metab Dis
; 40(6): 783-792, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28905140
16.
Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy.
Neuropediatrics
; 47(6): 399-403, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27522229
17.
Metabolomic profiles of hepatocellular carcinoma in a European prospective cohort.
BMC Med
; 13: 242, 2015 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26399231
18.
Metabolomics analysis uncovers that dietary restriction buffers metabolic changes associated with aging in Caenorhabditis elegans.
J Proteome Res
; 13(6): 2910-9, 2014 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24819046
19.
Downregulation of transcription factor E4F1 in hepatocarcinoma cells: HBV-dependent effects on autophagy, proliferation and metabolism.
Carcinogenesis
; 35(3): 635-50, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24163401
20.
SRV: an open-source toolbox to accelerate the recovery of metabolic biomarkers and correlations from metabolic phenotyping datasets.
Bioinformatics
; 29(10): 1348-9, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23508967