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1.
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Mol Genet Metab;
141(3): 108123, 2024 Mar.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36880392
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36542086
4.
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Mol Genet Metab;
139(4): 107650, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37454519
5.
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Mol Genet Metab;
140(3): 107674, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37542768
6.
A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.
J Pediatr;
254: 75-82.e4, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36265573
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36680547
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37235686
10.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet;
59(4): 377-384, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33737400
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35221207
12.
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
J Pediatr;
242: 192-200.e3, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34788681
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34687058
14.
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
J Inherit Metab Dis;
45(5): 937-951, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35618652
15.
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
J Inherit Metab Dis;
44(5): 1235-1247, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34014569
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32145964
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31525265
19.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32069933
20.
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.
Mol Genet Metab;
127(2): 147-157, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31182398