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
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
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
Inglês
| MEDLINE | ID: mdl-34503986
4.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
Am J Hum Genet
; 102(2): 266-277, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29395073
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
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
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
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
Inglês
| MEDLINE | ID: mdl-32273051
9.
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
Inglês
| MEDLINE | ID: mdl-31525265
10.
5-Fluorouracil rechallenge after 5-fluorouracil-induced hyperammonemic encephalopathy.
Anticancer Drugs
; 30(3): 313-317, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30531368
11.
Autism spectrum disorders in propionic acidemia patients.
J Inherit Metab Dis
; 41(4): 623-629, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28856627
12.
Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.
J Hepatol
; 2017 Sep 20.
Artigo
Inglês
| MEDLINE | ID: mdl-28939132
13.
A driver role for GABA metabolism in controlling stem and proliferative cell state through GHB production in glioma.
Acta Neuropathol
; 133(4): 645-660, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28032215
14.
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
Inglês
| MEDLINE | ID: mdl-28905140
15.
Neurocognitive profiles in MSUD school-age patients.
J Inherit Metab Dis
; 40(3): 377-383, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28324240
16.
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
PLoS Genet
; 10(11): e1004711, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25392908
17.
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Kidney Int
; 89(6): 1192-203, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27181776
18.
CIC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas.
Ann Neurol
; 78(3): 355-74, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26017892
19.
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
J Neurol Neurosurg Psychiatry
; 87(5): 550-3, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26536893
20.
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Brain
; 138(Pt 8): 2191-205, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26026163