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Page 1
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Bérat CM, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32929747
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.
de Lonlay P, Simon-Carre A, Ribeiro MJ, Boddaert N, Giurgea I, Laborde K, Bellanné-Chantelot C, Verkarre V, Polak M, Rahier J, Syrota A, Seidenwurm D, Nihoul-Fékété C, Robert JJ, Brunelle F, Jaubert F. de Lonlay P, et al. J Clin Endocrinol Metab. 2006 Mar;91(3):933-40. doi: 10.1210/jc.2005-1713. Epub 2006 Jan 10. J Clin Endocrinol Metab. 2006. PMID: 16403819
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Among authors: de lonlay p. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.
Coexistence in the same family of both focal and diffuse forms of hyperinsulinism.
Valayannopoulos V, Vaxillaire M, Aigrain Y, Jaubert F, Bellanné-Chantelot C, Ribeiro MJ, Brunelle F, Froguel P, Robert JJ, Polak M, Nihoul-Fékété C, de Lonlay P. Valayannopoulos V, et al. Among authors: de lonlay p. Diabetes Care. 2007 Jun;30(6):1590-2. doi: 10.2337/dc06-2327. Epub 2007 Mar 23. Diabetes Care. 2007. PMID: 17384337 No abstract available.
What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
Valayannopoulos V, Romano S, Mention K, Vassault A, Rabier D, Polak M, Robert JJ, de Keyzer Y, de Lonlay P. Valayannopoulos V, et al. Among authors: de keyzer y, de lonlay p. Eur J Pediatr. 2008 Mar;167(3):257-65. doi: 10.1007/s00431-007-0600-2. Epub 2007 Oct 3. Eur J Pediatr. 2008. PMID: 17912550 Review.
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A. Mollet J, et al. Among authors: de lonlay p, de baulny ho. Am J Hum Genet. 2008 Mar;82(3):623-30. doi: 10.1016/j.ajhg.2007.12.022. Am J Hum Genet. 2008. PMID: 18319072 Free PMC article.
[Hyperinsulinism in children: new concepts - the role of imaging].
Brunelle F, Ribeiro M, Boddaert N, Nihoul-Fekete C, Jaubert F, Rahier J, de Lonlay P. Brunelle F, et al. Among authors: de lonlay p. Bull Acad Natl Med. 2008 Jan;192(1):59-70; discussion 71-2. Bull Acad Natl Med. 2008. PMID: 18663982 French.
Management of West syndrome in a patient with methylmalonic aciduria.
Campeau PM, Valayannopoulos V, Touati G, Bahi-Buisson N, Boddaert N, Plouin P, Rabier D, Benoist JF, Dulac O, de Lonlay P, Desguerre I. Campeau PM, et al. Among authors: de lonlay p. J Child Neurol. 2010 Jan;25(1):94-7. doi: 10.1177/0883073809336119. Epub 2009 Aug 21. J Child Neurol. 2010. PMID: 19700743
Epileptic phenotypes in children with respiratory chain disorders.
El Sabbagh S, Lebre AS, Bahi-Buisson N, Delonlay P, Soufflet C, Boddaert N, Rio M, Rötig A, Dulac O, Munnich A, Desguerre I. El Sabbagh S, et al. Epilepsia. 2010 Jul;51(7):1225-35. doi: 10.1111/j.1528-1167.2009.02504.x. Epub 2010 Feb 19. Epilepsia. 2010. PMID: 20196775 Free article.
365 results