Detalhe da pesquisa
1.
Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
Eur J Neurol
; 31(2): e16138, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38015438
2.
Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients - A nationwide study of health insurance claims data.
Mol Genet Metab
; 139(3): 107625, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37329624
3.
Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.
Mol Genet Metab
; 140(3): 107704, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37812967
4.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
J Inherit Metab Dis
; 2023 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38069502
5.
Givosiran in acute intermittent porphyria: A personalized medicine approach.
Mol Genet Metab
; 135(3): 206-214, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35058124
6.
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.
Mol Genet Metab
; 132(4): 227-233, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33610471
7.
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
J Inherit Metab Dis
; 44(5): 1199-1214, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34014557
8.
Long term outcome of MPI-CDG patients on D-mannose therapy.
J Inherit Metab Dis
; 43(6): 1360-1369, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33098580
9.
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Mol Genet Metab
; 123(4): 441-448, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29478820
10.
Foetal exposure to mitotane/Op'DDD: Post-natal study of four children.
Clin Endocrinol (Oxf)
; 89(6): 805-812, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30222204
11.
A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes.
Anal Biochem
; 528: 57-62, 2017 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28456637
12.
Comparison of fluid balance and hemodynamic and metabolic effects of sodium lactate versus sodium bicarbonate versus 0.9% NaCl in porcine endotoxic shock: a randomized, open-label, controlled study.
Crit Care
; 21(1): 113, 2017 May 19.
Artigo
Inglês
| MEDLINE | ID: mdl-28526086
13.
Laparoscopic adrenalectomy by transabdominal lateral approach: 20 years of experience.
Surg Endosc
; 31(7): 2743-2751, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27834023
14.
The Case | A man with acute bilateral urolithiasis.
Kidney Int
; 99(4): 1029-1030, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33745538
15.
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
J Inherit Metab Dis
; 39(2): 273-83, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26642971
16.
Very High Plasma Homocysteine without Malnutrition or Inherited Disorder.
Clin Chem
; 66(11): 1468-1469, 2020 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33141907
17.
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
J Inherit Metab Dis
; 36(5): 859-68, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23197103
18.
Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study.
J Neurol
; 270(4): 2237-2245, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36690804
19.
Erratum to: Laparoscopic adrenalectomy by transabdominal lateral approach: 20 years of experience.
Surg Endosc
; 31(7): 2752, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28600776
20.
A case of pink urine associated with abdominal pain crisis / Un cas d'urines roses associées à des crises de douleurs abdominales
Ann Biol Clin (Paris)
; 80(4): 389-392, 2022 07 01.
Artigo
Inglês, Francês
| MEDLINE | ID: mdl-36099345