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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 2
2018 4
2021 9
2022 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
An Atypical Case of Congenital Erythropoietic Porphyria.
Sudrié-Arnaud B, Legendre M, Snanoudj S, Pelluard F, Bekri S, Tebani A. Sudrié-Arnaud B, et al. Genes (Basel). 2021 Nov 19;12(11):1828. doi: 10.3390/genes12111828. Genes (Basel). 2021. PMID: 34828434 Free PMC article.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. Among authors: sudrie arnaud b. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot AM, Benoist JF, Marret S, Bekri S, Tebani A. Abily-Donval L, et al. Among authors: sudrie arnaud b. Int J Mol Sci. 2017 Nov 1;18(11):2294. doi: 10.3390/ijms18112294. Int J Mol Sci. 2017. PMID: 29104221 Free PMC article.
An Unusual Peak in a Common Clinical Presentation.
Sudrié-Arnaud B, Snanoudj S, Imbard A, Dabaj I, Tebani A. Sudrié-Arnaud B, et al. Clin Chem. 2021 Apr 29;67(5):799-801. doi: 10.1093/clinchem/hvab012. Clin Chem. 2021. PMID: 33928370 No abstract available.
Acute Respiratory Infection Unveiling CPT II Deficiency.
Blah N, Sudrié-Arnaud B, Torre S, Marret S, Bekri S, Tebani A. Blah N, et al. Among authors: sudrie arnaud b. Int J Mol Sci. 2018 Sep 27;19(10):2950. doi: 10.3390/ijms19102950. Int J Mol Sci. 2018. PMID: 30262761 Free PMC article.
Large-scale screening of lipase acid deficiency in at risk population.
Tebani A, Sudrié-Arnaud B, Boudabous H, Brassier A, Anty R, Snanoudj S, Abergel A, Abi Warde MT, Bardou-Jacquet E, Belbouab R, Blanchet E, Borderon C, Bronowicki JP, Cariou B, Carette C, Dabbas M, Dranguet H, de Ledinghen V, Ferrières J, Guillaume M, Krempf M, Lacaille F, Larrey D, Leroy V, Musikas M, Nguyen-Khac E, Ouzan D, Perarnau JM, Pilon C, Ratzlu V, Thebaut A, Thevenot T, Tragin I, Triolo V, Vergès B, Vergnaud S, Bekri S. Tebani A, et al. Among authors: sudrie arnaud b. Clin Chim Acta. 2021 Aug;519:64-69. doi: 10.1016/j.cca.2021.04.005. Epub 2021 Apr 20. Clin Chim Acta. 2021. PMID: 33857477 Free article.
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Snanoudj S, Torre S, Sudrié-Arnaud B, Abily-Donval L, Goldenberg A, Salomons GS, Marret S, Bekri S, Tebani A. Snanoudj S, et al. Among authors: sudrie arnaud b. Int J Mol Sci. 2021 Nov 23;22(23):12633. doi: 10.3390/ijms222312633. Int J Mol Sci. 2021. PMID: 34884438 Free PMC article.
16 results