Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

48 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
[Oxalate: from physiology to pathology].
Grocholski C, Derain Dubourg L, Guebre-Egziabher F, Acquaviva-Bourdain C, Abid N, Bacchetta J, Chambrier C, Lemoine S. Grocholski C, et al. Among authors: acquaviva bourdain c. Nephrol Ther. 2023 Jun 19;19(3):201-214. doi: 10.1684/ndt.2023.10. Nephrol Ther. 2023. PMID: 37166780 Review. French.
Isolated kidney transplantation under lumasiran therapy in primary hyperoxaluria type 1: a report of five cases.
Sellier-Leclerc AL, Metry E, Clave S, Perrin P, Acquaviva-Bourdain C, Levi C, Crop M, Caillard S, Moulin B, Groothoff J, Bacchetta J. Sellier-Leclerc AL, et al. Among authors: acquaviva bourdain c. Nephrol Dial Transplant. 2023 Feb 13;38(2):517-521. doi: 10.1093/ndt/gfac295. Nephrol Dial Transplant. 2023. PMID: 36307929 No abstract available.
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M. Lefèvre CR, et al. Among authors: acquaviva bourdain c. J Inherit Metab Dis. 2024 Mar;47(2):255-269. doi: 10.1002/jimd.12692. Epub 2023 Nov 27. J Inherit Metab Dis. 2024. PMID: 38012812 Review.
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, Gueguen N, Fragaki K, Amati-Bonneau P, Barcia G, Gaignard P, Steffann J, Pennisi A, Bonnefont JP, Lebigot E, Bannwarth S, Francou B, Rucheton B, Sternberg D, Martin-Negrier ML, Trimouille A, Hardy G, Allouche S, Acquaviva-Bourdain C, Pagan C, Lebre AS, Reynier P, Cossee M, Attarian S, Paquis-Flucklinger V; MitoDiag's Network Collaborators; Procaccio V. Rouzier C, et al. Among authors: acquaviva bourdain c. Ann Clin Transl Neurol. 2024 May 4. doi: 10.1002/acn3.52062. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38703036 Free article.
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D. Lefèvre CR, et al. Among authors: acquaviva bourdain c. Int J Neonatal Screen. 2023 Feb 1;9(1):6. doi: 10.3390/ijns9010006. Int J Neonatal Screen. 2023. PMID: 36810318 Free PMC article. Review.
Improving diagnosis of mitochondrial fatty-acid oxidation disorders.
Vianey-Saban C, Fouilhoux A, Vockley J, Acquaviva-Bourdain C, Guffon N. Vianey-Saban C, et al. Among authors: acquaviva bourdain c. Eur J Hum Genet. 2023 Mar;31(3):265-272. doi: 10.1038/s41431-022-01260-1. Epub 2023 Jan 5. Eur J Hum Genet. 2023. PMID: 36599942 Free PMC article. No abstract available.
Primary hyperoxaluria type 1: pathophysiology and genetics.
Fargue S, Acquaviva Bourdain C. Fargue S, et al. Among authors: acquaviva bourdain c. Clin Kidney J. 2022 May 17;15(Suppl 1):i4-i8. doi: 10.1093/ckj/sfab217. eCollection 2022 May. Clin Kidney J. 2022. PMID: 35592619 Free PMC article. Review.
48 results