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Items: 1 to 20 of 64


Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.

Chabchoub I, Boudabbous H, Maaloul I, Ben Abdelaziz R, Ben Chehida A, Ayadi L, Kamoun T, Tebib N, Boudaouara T, Bekri S, Hachicha M.

J Pediatr Hematol Oncol. 2019 Jul 16. doi: 10.1097/MPH.0000000000001552. [Epub ahead of print]


A new optimization strategy for MALDI FTICR MS tissue analysis for untargeted metabolomics using experimental design and data modeling.

Ferey J, Marguet F, Laquerrière A, Marret S, Schmitz-Afonso I, Bekri S, Afonso C, Tebani A.

Anal Bioanal Chem. 2019 Jul;411(17):3891-3903. doi: 10.1007/s00216-019-01863-6. Epub 2019 May 15.


Paving the Way to Precision Nutrition Through Metabolomics.

Tebani A, Bekri S.

Front Nutr. 2019 Apr 9;6:41. doi: 10.3389/fnut.2019.00041. eCollection 2019. Review.


Hyperinsulinemic Hypoglycemia in a Neonate.

Melin A, Brossard C, Castanet M, Bekri S, Tebani A.

Clin Chem. 2019 Feb;65(2):351-353. doi: 10.1373/clinchem.2018.292326. No abstract available.


Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics.

Tebani A, Abily-Donval L, Schmitz-Afonso I, Piraud M, Ausseil J, Zerimech F, Pilon C, Pereira T, Marret S, Afonso C, Bekri S.

Int J Mol Sci. 2019 Jan 21;20(2). pii: E446. doi: 10.3390/ijms20020446.


Acute Respiratory Infection Unveiling CPT II Deficiency.

Blah N, Sudrié-Arnaud B, Torre S, Marret S, Bekri S, Tebani A.

Int J Mol Sci. 2018 Sep 27;19(10). pii: E2950. doi: 10.3390/ijms19102950.


Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis.

Tebani A, Abily-Donval L, Schmitz-Afonso I, Héron B, Piraud M, Ausseil J, Zerimech F, Gonzalez B, Marret S, Afonso C, Bekri S.

J Transl Med. 2018 Sep 4;16(1):248. doi: 10.1186/s12967-018-1625-1.


A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.

Tinsa F, Ben Romdhane M, Boudabous H, Bel Hadj I, Brini I, Tebib N, Louati H, Bekri S, Boussetta K.

J Pediatr Hematol Oncol. 2019 Apr;41(3):e193-e196. doi: 10.1097/MPH.0000000000001192.


Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.

Grotto S, Sudrié-Arnaud B, Drouin-Garraud V, Nafeh-Bizet C, Chadefaux-Vekemans B, Gobin S, Bekri S, Tebani A.

Clin Chem. 2018 Apr;64(4):752-754. doi: 10.1373/clinchem.2017.281246. No abstract available.


Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.

Joncquel-Chevalier Curt M, Bout MA, Fontaine M, Kim I, Huet G, Bekri S, Morin G, Moortgat S, Moerman A, Cuisset JM, Cheillan D, Vamecq J.

Mol Genet Metab. 2018 Apr;123(4):463-471. doi: 10.1016/j.ymgme.2018.02.010. Epub 2018 Feb 16.


Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

Sudrié-Arnaud B, Marguet F, Patrier S, Martinovic J, Louillet F, Broux F, Charbonnier F, Dranguet H, Coutant S, Vezain M, Lanos R, Tebani A, Fuller M, Lamari F, Chambon P, Brehin AC, Trestard L, Tournier I, Marret S, Verspyck E, Laquerrière A, Bekri S.

Clin Chim Acta. 2018 Jun;481:1-8. doi: 10.1016/j.cca.2018.02.023. Epub 2018 Feb 22.


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.

Int J Mol Sci. 2017 Nov 1;18(11). pii: E2294. doi: 10.3390/ijms18112294.


Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.

Tebani A, Schmitz-Afonso I, Abily-Donval L, Héron B, Piraud M, Ausseil J, Brassier A, De Lonlay P, Zerimech F, Vaz FM, Gonzalez BJ, Marret S, Afonso C, Bekri S.

Clin Chim Acta. 2017 Dec;475:7-14. doi: 10.1016/j.cca.2017.09.024. Epub 2017 Oct 2.


Advances in metabolome information retrieval: turning chemistry into biology. Part II: biological information recovery.

Tebani A, Afonso C, Bekri S.

J Inherit Metab Dis. 2018 May;41(3):393-406. doi: 10.1007/s10545-017-0080-0. Epub 2017 Aug 25.


Advances in metabolome information retrieval: turning chemistry into biology. Part I: analytical chemistry of the metabolome.

Tebani A, Afonso C, Bekri S.

J Inherit Metab Dis. 2018 May;41(3):379-391. doi: 10.1007/s10545-017-0074-y. Epub 2017 Aug 24.


Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Gaildrat P, Lebbah S, Tebani A, Sudrié-Arnaud B, Tostivint I, Bollee G, Tubeuf H, Charles T, Bertholet-Thomas A, Goldenberg A, Barbey F, Martins A, Saugier-Veber P, Frébourg T, Knebelmann B, Bekri S.

Mol Genet Genomic Med. 2017 May 16;5(4):373-389. doi: 10.1002/mgg3.294. eCollection 2017 Jul.


PLGF, a placental marker of fetal brain defects after in utero alcohol exposure.

Lecuyer M, Laquerrière A, Bekri S, Lesueur C, Ramdani Y, Jégou S, Uguen A, Marcorelles P, Marret S, Gonzalez BJ.

Acta Neuropathol Commun. 2017 Jun 6;5(1):44. doi: 10.1186/s40478-017-0444-6.


Enhancing the diagnosis of fabry disease in cardiology with a targeted information: a before-after control-impact study.

Savary AL, Morello R, Brasse-Lagnel C, Milliez P, Bekri S, Labombarda F.

Open Heart. 2017 Mar 13;4(1):e000567. doi: 10.1136/openhrt-2016-000567. eCollection 2017.


Prenatal alcohol exposure impairs autophagy in neonatal brain cortical microvessels.

Girault V, Gilard V, Marguet F, Lesueur C, Hauchecorne M, Ramdani Y, Laquerrière A, Marret S, Jégou S, Gonzalez BJ, Brasse-Lagnel C, Bekri S.

Cell Death Dis. 2017 Feb 9;8(2):e2610. doi: 10.1038/cddis.2017.29.


Proteomic and transcriptomic study of brain microvessels in neonatal and adult mice.

Porte B, Chatelain C, Hardouin J, Derambure C, Zerdoumi Y, Hauchecorne M, Dupré N, Bekri S, Gonzalez B, Marret S, Cosette P, Leroux P.

PLoS One. 2017 Jan 31;12(1):e0171048. doi: 10.1371/journal.pone.0171048. eCollection 2017.

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