Detalhe da pesquisa
1.
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
J Clin Immunol
; 43(6): 1436-1447, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171742
2.
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Mol Genet Metab
; 139(4): 107650, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454519
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542768
4.
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
5.
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
6.
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.
Eur J Paediatr Neurol
; 50: 6-15, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520815
7.
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Neurol Genet
; 10(2): e200146, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38617198
8.
Citrulline in the management of patients with urea cycle disorders.
Orphanet J Rare Dis
; 18(1): 207, 2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480106
9.
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort.
Mol Genet Metab Rep
; 26: 100655, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473351
10.
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy.
Neurology
; 102(11): e209356, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38754044