Detalhe da pesquisa
1.
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.
Mol Genet Metab
; 140(4): 107733, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979236
2.
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
3.
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
4.
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
5.
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
6.
Letter to the editor: clarifying some aspects and the terminology of individualized human milk fortification.
BMC Pediatr
; 19(1): 135, 2019 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31027484
7.
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
J Inherit Metab Dis
; 41(1): 129-139, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28924877
8.
Neurocognitive profiles in MSUD school-age patients.
J Inherit Metab Dis
; 40(3): 377-383, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28324240
9.
It's time to change the recommendations on COVID-19 and human milk donations.
Acta Paediatr
; 110(5): 1405-1406, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527456
10.
Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.
Drugs R D
; 24(1): 69-80, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198106
11.
Severe transient ADAMTS13 deficiency in pneumococcal-associated hemolytic uremic syndrome.
Pediatr Nephrol
; 26(4): 631-5, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21161282
12.
Successful treatment with rituximab for acute refractory thrombotic thrombocytopenic purpura related to acquired ADAMTS13 deficiency: a pediatric report and literature review.
Pediatr Crit Care Med
; 12(2): e90-3, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20625343
13.
Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.
JIMD Rep
; 59(1): 110-119, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977036
14.
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
EBioMedicine
; 51: 102623, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923802
15.
Fortification of Human Milk for Preterm Infants: Update and Recommendations of the European Milk Bank Association (EMBA) Working Group on Human Milk Fortification.
Front Pediatr
; 7: 76, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968003
16.
Effects of Maternal Supplementation With Omega-3 Precursors on Human Milk Composition.
J Hum Lact
; 33(2): 319-328, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28418808
17.
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate ß-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Clin Chim Acta
; 471: 101-106, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28532786
18.
A 10-year-old boy with dark urine and acute kidney injury.
Pediatr Nephrol
; 26(8): 1229-33, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21271260
19.
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Orphanet J Rare Dis
; 10: 158, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26666653
20.
Altered vascular function in fetal programming of hypertension.
Stroke
; 33(12): 2992-8, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12468802