Imbard A - Search Results

1

Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.

Dupuy G, Roux CJ, Barrois R, Imbard A, Pontoizeau C, Dangles MT, Aubart M, Arnoux JB, Margoses D, Brassier A, Marbach C, Bérat CM, Sarda E, Gitiaux C, de Lonlay P, Boddaert N, Schiff M, Desguerre I. Dupuy G, et al. Among authors: imbard a. Eur J Paediatr Neurol. 2024 May;50:6-15. doi: 10.1016/j.ejpn.2024.02.013. Epub 2024 Feb 26. Eur J Paediatr Neurol. 2024. PMID: 38520815

2

Antenatal biochemical expression of cystinuria and relation to fetal hyperechogenic colon.

Benoist JF, Imbard A, Dreux S, Garel C, Haddad G, Hoffet M, Biou D, Muller F. Benoist JF, et al. Among authors: imbard a. Clin Chem. 2007 Jan;53(1):149-50. doi: 10.1373/clinchem.2007.080705. Clin Chem. 2007. PMID: 17202504 No abstract available.

3

Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.

Deschamps R, Savatovsky J, Vignal C, Fisselier M, Imbard A, Wolf B, Procter M, Gout O. Deschamps R, et al. Among authors: imbard a. J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):1009-1010. doi: 10.1136/jnnp-2017-316644. Epub 2017 Oct 12. J Neurol Neurosurg Psychiatry. 2018. PMID: 29025919 No abstract available.

4

Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening.

Imbard A, Alberti C, Armoogum-Boizeau P, Ottolenghi C, Josserand E, Rigal O, Benoist JF. Imbard A, et al. Clin Chem Lab Med. 2012 Dec;50(12):2231-3. doi: 10.1515/cclm-2012-0266. Clin Chem Lab Med. 2012. PMID: 23093084 No abstract available.

5

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.

Esse R, Imbard A, Florindo C, Gupta S, Quinlivan EP, Davids M, Teerlink T, Tavares de Almeida I, Kruger WD, Blom HJ, Castro R. Esse R, et al. Among authors: imbard a. FASEB J. 2014 Jun;28(6):2686-95. doi: 10.1096/fj.13-246579. Epub 2014 Feb 14. FASEB J. 2014. PMID: 24532665 Free PMC article.

6

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P. Sabbagh A, et al. Among authors: imbard a. Hum Mutat. 2013 Nov;34(11):1510-8. doi: 10.1002/humu.22392. Epub 2013 Aug 26. Hum Mutat. 2013. PMID: 23913538

7

Liver and brain differential expression of one-carbon metabolism genes during ontogenesis.

Imbard A, Schwendimann L, Lebon S, Gressens P, Blom HJ, Benoist JF. Imbard A, et al. Sci Rep. 2021 Oct 26;11(1):21132. doi: 10.1038/s41598-021-00311-9. Sci Rep. 2021. PMID: 34702858 Free PMC article.

8

Neurocognitive profiles in MSUD school-age patients.

Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M. Bouchereau J, et al. Among authors: imbard a. J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324240

9

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M. Dewulf JP, et al. Among authors: imbard a. Ann Neurol. 2019 Mar;85(3):385-395. doi: 10.1002/ana.25412. Epub 2019 Jan 29. Ann Neurol. 2019. PMID: 30635937

10

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.

Bower A, Imbard A, Benoist JF, Pichard S, Rigal O, Baud O, Schiff M. Bower A, et al. Among authors: imbard a. Sci Rep. 2019 Oct 1;9(1):14098. doi: 10.1038/s41598-019-50518-0. Sci Rep. 2019. PMID: 31575911 Free PMC article.

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