Detalhe da pesquisa
1.
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Genet Med
; 25(2): 100328, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36542086
2.
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Mol Genet Metab
; 139(4): 107650, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37454519
3.
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
Inglês
| MEDLINE | ID: mdl-36265570
4.
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.
J Inherit Metab Dis
; 46(5): 972-981, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37381921
5.
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
Inglês
| MEDLINE | ID: mdl-37235686
6.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33737400
7.
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
Inglês
| MEDLINE | ID: mdl-34788681
8.
Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID-19): a multicentre cohort.
Ann Rheum Dis
; 79(8): 999-1006, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32527868
9.
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
J Pediatr
; 220: 184-192.e6, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32145964
10.
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
J Inherit Metab Dis
; 43(3): 540-548, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31816104
11.
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
Dev Med Child Neurol
; 62(4): 528-530, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31489614
12.
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Int J Mol Sci
; 21(4)2020 Feb 13.
Artigo
Inglês
| MEDLINE | ID: mdl-32069933
13.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27259049
14.
Long-term liver disease in methylmalonic and propionic acidemias.
Mol Genet Metab
; 123(4): 433-440, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29433791
15.
LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly.
Clin Chem
; 2022 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35015843
16.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
J Inherit Metab Dis
; 40(3): 415-422, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28255778
17.
Neurocognitive profiles in MSUD school-age patients.
J Inherit Metab Dis
; 40(3): 377-383, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28324240
18.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Hepatology
; 70(3): 1066-1070, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30912852
19.
DNAJC12: A molecular chaperone involved in proteostasis, PKU, biogenic amines metabolism and beyond?
Mol Genet Metab
; 123(3): 285-286, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29396030
20.
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Orphanet J Rare Dis
; 18(1): 204, 2023 07 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37480097