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Page 1
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. Tebani A, et al. Among authors: de lonlay p. Clin Chim Acta. 2017 Dec;475:7-14. doi: 10.1016/j.cca.2017.09.024. Epub 2017 Oct 2. Clin Chim Acta. 2017. PMID: 28982054 Free article.
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: de keyzer y, de meirleir l, de lonlay p. Hum Mutat. 2010 Jul;31(7):E1564-73. doi: 10.1002/humu.21282. Hum Mutat. 2010. PMID: 20583302 Free article.
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P. Ottolenghi C, et al. Among authors: de keyzer y, de lonlay p. Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21560188
Congenital hyperinsulinism: current trends in diagnosis and therapy.
Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayannopoulos V, Brunelle F, Fournet JC, Robert JJ, Aigrain Y, Bellanné-Chantelot C, de Lonlay P. Arnoux JB, et al. Among authors: de lonlay p. Orphanet J Rare Dis. 2011 Oct 3;6:63. doi: 10.1186/1750-1172-6-63. Orphanet J Rare Dis. 2011. PMID: 21967988 Free PMC article. Review.
Successful treatment of congenital hyperinsulinism with long-acting release octreotide.
Le Quan Sang KH, Arnoux JB, Mamoune A, Saint-Martin C, Bellanné-Chantelot C, Valayannopoulos V, Brassier A, Kayirangwa H, Barbier V, Broissand C, Fabreguettes JR, Charron B, Thalabard JC, de Lonlay P. Le Quan Sang KH, et al. Among authors: de lonlay p. Eur J Endocrinol. 2012 Feb;166(2):333-9. doi: 10.1530/EJE-11-0874. Epub 2011 Nov 2. Eur J Endocrinol. 2012. PMID: 22048969 Clinical Trial.
Fatal rhabdomyolysis in 2 children with LPIN1 mutations.
Bergounioux J, Brassier A, Rambaud C, Bustarret O, Michot C, Hubert L, Arnoux JB, Laquerriere A, Bekri S, Galene-Gromez S, Bonnet D, Hubert P, de Lonlay P. Bergounioux J, et al. Among authors: de lonlay p. J Pediatr. 2012 Jun;160(6):1052-4. doi: 10.1016/j.jpeds.2012.02.033. Epub 2012 Apr 4. J Pediatr. 2012. PMID: 22480698
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, JeanPierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: de keyzer y, de lonlay p. J Inherit Metab Dis. 2012 Nov;35(6):1119-28. doi: 10.1007/s10545-012-9461-6. Epub 2012 Apr 6. J Inherit Metab Dis. 2012. PMID: 22481384
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P. Brassier A, et al. Among authors: de keyzer y, de lonlay p. Mol Genet Metab. 2013 May;109(1):28-32. doi: 10.1016/j.ymgme.2013.01.017. Epub 2013 Feb 1. Mol Genet Metab. 2013. PMID: 23478190
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
Nizon M, Boutron A, Boddaert N, Slama A, Delpech H, Sardet C, Brassier A, Habarou F, Delahodde A, Correia I, Ottolenghi C, de Lonlay P. Nizon M, et al. Among authors: de lonlay p. Mitochondrion. 2014 Mar;15:59-64. doi: 10.1016/j.mito.2014.01.003. Epub 2014 Jan 22. Mitochondrion. 2014. PMID: 24462778
358 results