Detalhe da pesquisa
1.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190515
2.
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
3.
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
4.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
J Inherit Metab Dis
; 2024 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433424
5.
Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients - A nationwide study of health insurance claims data.
Mol Genet Metab
; 139(3): 107625, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37329624
6.
Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.
Mol Genet Metab
; 140(3): 107704, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37812967
7.
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
8.
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
em Inglês
| MEDLINE | ID: mdl-36680547
9.
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
10.
What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children.
Mol Genet Metab
; 135(4): 320-326, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35221207
11.
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
12.
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
Hum Mutat
; 42(4): 408-420, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410562
13.
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
J Inherit Metab Dis
; 44(5): 1199-1214, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014557
14.
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
15.
Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Hum Mutat
; 41(5): 884-905, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027066
16.
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
17.
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
18.
Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study.
Liver Int
; 40(9): 2203-2214, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32657505
19.
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
J Inherit Metab Dis
; 43(4): 737-747, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609457
20.
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