Vianey-Saban C - Search Results

1

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Collardeau-Frachon S, Cordier MP, Rossi M, Guibaud L, Vianey-Saban C. Collardeau-Frachon S, et al. J Inherit Metab Dis. 2016 Sep;39(5):597-610. doi: 10.1007/s10545-016-9937-x. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106218 Review.

2

Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R. Vianey-Saban C, et al. J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. J Inherit Metab Dis. 2016. PMID: 27393412 Review.

3

Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

Guibaud L, Collardeau-Frachon S, Lacalm A, Massoud M, Rossi M, Cordier MP, Vianey-Saban C. Guibaud L, et al. J Inherit Metab Dis. 2017 Jan;40(1):103-112. doi: 10.1007/s10545-016-9992-3. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853988 Review.

4

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC. Rossi M, et al. Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3. Pediatr Radiol. 2015. PMID: 25646736 Review.

5

Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.

Vianey-Saban C, Bouvier R, Cochat P, Buenerd A, Divry P, Dumoulin R, Cordier MP. Vianey-Saban C, et al. J Inherit Metab Dis. 2000 Jun;23(4):345-8. doi: 10.1023/a:1005623028638. J Inherit Metab Dis. 2000. PMID: 10896290 No abstract available.

6

A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.

Rossi M, Vasiljevic A, Labalme A, Dijoud F, Mallet-Motak D, Petcu CA, Touraine R, Vianey-Saban C, Guibaud L, Edery P, Sanlaville D, Morel Y. Rossi M, et al. Am J Med Genet A. 2017 Mar;173(3):654-660. doi: 10.1002/ajmg.a.38093. Epub 2017 Feb 4. Am J Med Genet A. 2017. PMID: 28160395

7

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

Lion-François L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gérard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V. Lion-François L, et al. Neurology. 2006 Nov 14;67(9):1713-4. doi: 10.1212/01.wnl.0000239153.39710.81. Neurology. 2006. PMID: 17101918 No abstract available.

8

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.

9

« Les Confluences » SSIEM 2015 Annual Symposium in Lyon.

Vianey-Saban C. Vianey-Saban C. J Inherit Metab Dis. 2016 Jul;39(4):481. doi: 10.1007/s10545-016-9934-0. J Inherit Metab Dis. 2016. PMID: 27091557 No abstract available.

10

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

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