Vianey-Saban C - Search Results

1

A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.

Guffon N, Vianey-Saban C, Bourgeois J, Rabier D, Colombo JP, Guibaud P. Guffon N, et al. J Inherit Metab Dis. 1995;18(1):61-5. doi: 10.1007/BF00711374. J Inherit Metab Dis. 1995. PMID: 7623444

2

Arginase deficiency in two brothers.

Candito M, Bebin B, Vianey-Saban C, Rabier D, Bekri S, Sebag F, Chambon P, Kamoun P. Candito M, et al. J Inherit Metab Dis. 1993;16(6):1054-6. doi: 10.1007/BF00711531. J Inherit Metab Dis. 1993. PMID: 8127062 No abstract available.

3

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry.

Vianey-Saban C, Guffon N, Delolne F, Guibaud P, Mathieu M, Divry P. Vianey-Saban C, et al. J Inherit Metab Dis. 1997 Jul;20(3):411-4. doi: 10.1023/a:1005306818025. J Inherit Metab Dis. 1997. PMID: 9266369 Clinical Trial. No abstract available.

4

Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.

Guffon N, Schiff M, Cheillan D, Wermuth B, Häberle J, Vianey-Saban C. Guffon N, et al. J Pediatr. 2005 Aug;147(2):260-2. doi: 10.1016/j.jpeds.2005.04.059. J Pediatr. 2005. PMID: 16126063

5

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778

6

[Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings].

Guffon N, Vianey-Saban C, Berthier JC, Till M, Bertrand C, Divry P, Guibaud P. Guffon N, et al. Pediatrie. 1993;48(5):365-71. Pediatrie. 1993. PMID: 7777389 French.

7

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M. Saudubray JM, et al. J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. J Inherit Metab Dis. 1999. PMID: 10407781 Review.

8

CDG IIx with unusual phenotype.

Cheillan D, Cognat S, Dorche C, Jaeken J, Vianey-Saban C, Guffon N. Cheillan D, et al. J Inherit Metab Dis. 2004;27(1):103-4. doi: 10.1023/b:boli.0000016679.20481.4a. J Inherit Metab Dis. 2004. PMID: 15065572

9

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.

Rolland MO, Cuisset L, Le Bozec J, Guffon N, Vianey-Saban C. Rolland MO, et al. J Inherit Metab Dis. 2005;28(6):1141-2. doi: 10.1007/s10545-005-0147-1. J Inherit Metab Dis. 2005. PMID: 16435209

10

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.

Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N. Schiff M, et al. Mol Genet Metab. 2006 Feb;87(2):175-7. doi: 10.1016/j.ymgme.2005.10.007. Epub 2005 Dec 1. Mol Genet Metab. 2006. PMID: 16325442

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