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Novel mutations in pyridoxine-dependent epilepsy.
Millet A, Salomons GS, Cneude F, Corne C, Debillon T, Jakobs C, Struys E, Hamelin S. Millet A, et al. Among authors: corne c. Eur J Paediatr Neurol. 2011 Jan;15(1):74-7. doi: 10.1016/j.ejpn.2010.03.011. Epub 2010 Apr 28. Eur J Paediatr Neurol. 2011. PMID: 20427214
[Simultaneous determination of guanidinoacetate, creatine and creatinine by liquid chromatography-tandem mass spectrometry: a diagnostic tool for creatine deficiency syndromes in body fluids and a perspective use on cultured fibroblasts].
Van Noolen L, Monneret D, Ducros V, Corne C, Lunardi J, Faure P. Van Noolen L, et al. Among authors: corne c. Ann Biol Clin (Paris). 2013 Jul-Aug;71(4):429-37. doi: 10.1684/abc.2013.0871. Ann Biol Clin (Paris). 2013. PMID: 23906570 Free article. French.
Tryptophan metabolism in phenylketonuria: A French adult cohort study.
Boulet L, Besson G, Van Noolen L, Faure P; ECOPHEN Study Group; Maillot F, Corne C. Boulet L, et al. Among authors: corne c. J Inherit Metab Dis. 2020 Sep;43(5):944-951. doi: 10.1002/jimd.12250. Epub 2020 Jun 4. J Inherit Metab Dis. 2020. PMID: 32392388
[Recommendations for acylcarnitine profile analysis].
Nowoczyn M, Acquaviva-Bourdain C, Corne C, Minet-Quinard R, Van Noolen L, Garnotel R, Dessein AF. Nowoczyn M, et al. Among authors: corne c. Ann Biol Clin (Paris). 2020 Oct 1;78(5):537-546. doi: 10.1684/abc.2020.1582. Ann Biol Clin (Paris). 2020. PMID: 32933890 Free article. French.
[Recommendations for urinary organic acids analysis].
Van Noolen L, Acquaviva-Bourdain C, Dessein AF, Minet-Quinard R, Nowoczyn M, Garnotel R, Corne C. Van Noolen L, et al. Among authors: corne c. Ann Biol Clin (Paris). 2020 Oct 1;78(5):547-554. doi: 10.1684/abc.2020.1583. Ann Biol Clin (Paris). 2020. PMID: 33026349 Free article. French.
[Recommendations for aminoacids chromatography analysis].
Veauville A, Acquaviva-Bourdain C, Nowoczyn M, Read MH, Corne C, Dessein AF, Van Noolen L, Garnotel R, Minet-Quinard R. Veauville A, et al. Among authors: corne c. Ann Biol Clin (Paris). 2020 Oct 1;78(5):555-564. doi: 10.1684/abc.2020.1585. Ann Biol Clin (Paris). 2020. PMID: 33026350 Free article. French.
Familial deep cavitating state with a glutathione metabolism defect.
Rendu J, Van Noolen L, Garrel C, Brocard J, Marty I, Corne C, Fauré J, Besson G. Rendu J, et al. Among authors: corne c. Ann Clin Transl Neurol. 2019 Dec;6(12):2573-2578. doi: 10.1002/acn3.50933. Epub 2019 Nov 9. Ann Clin Transl Neurol. 2019. PMID: 31705625 Free PMC article.
32 results