Detalhe da pesquisa
1.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244286
2.
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases.
Hum Genomics
; 17(1): 5, 2023 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740706
3.
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
Am J Med Genet A
; : e63642, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711237
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.
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.
Brain
; 146(8): 3444-3454, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37143309
6.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
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.
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
9.
Nutri-Score: Its Benefits and Limitations in Children's Feeding.
J Pediatr Gastroenterol Nutr
; 76(3): e46-e60, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399776
10.
Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.
Hum Mol Genet
; 29(12): 1969-1985, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32068834
11.
Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study.
J Hepatol
; 76(3): 577-587, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34774639
12.
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Hum Genet
; 141(7): 1269-1278, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34495415
13.
Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria.
Mol Genet Metab
; 135(3): 171-178, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101330
14.
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
15.
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.
J Inherit Metab Dis
; 45(2): 215-222, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687058
16.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Hum Mutat
; 42(2): 142-149, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300232
17.
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Hum Mutat
; 42(12): 1576-1583, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570399
18.
Treatment of ARS deficiencies with specific amino acids.
Genet Med
; 23(11): 2202-2207, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194004
19.
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
J Inherit Metab Dis
; 44(3): 777-786, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33089527
20.
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