de Lonlay P - Search Results

1

Neurocognitive profiles in MSUD school-age patients.

Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M. Bouchereau J, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324240

2

Persistent hyperinsulinaemic hypoglycaemia.

de Lonlay P, Touati G, Robert JJ, Saudubray JM. de Lonlay P, et al. Semin Neonatol. 2002 Feb;7(1):95-100. doi: 10.1053/siny.2001.0090. Semin Neonatol. 2002. PMID: 12069542 Review.

3

Neonatal hypoglycaemia: aetiologies.

de Lonlay P, Giurgea I, Touati G, Saudubray JM. de Lonlay P, et al. Semin Neonatol. 2004 Feb;9(1):49-58. doi: 10.1016/j.siny.2003.08.002. Semin Neonatol. 2004. PMID: 15013475 Review.

4

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, Roe CR, Saudubray JM. Mochel F, et al. Mol Genet Metab. 2005 Apr;84(4):305-12. doi: 10.1016/j.ymgme.2004.09.007. Mol Genet Metab. 2005. PMID: 15781190

5

Respiratory chain defects may present only with hypoglycemia.

Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P. Mochel F, et al. J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. doi: 10.1210/jc.2005-0009. Epub 2005 Mar 22. J Clin Endocrinol Metab. 2005. PMID: 15784700

6

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.

García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM. García-Cazorla A, et al. Among authors: de lonlay p. Ann Neurol. 2006 Jan;59(1):121-7. doi: 10.1002/ana.20709. Ann Neurol. 2006. PMID: 16278852

7

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.

Garcia-Cazorla A, De Lonlay P, Rustin P, Chretien D, Touati G, Rabier D, Slama A, Saudubray JM. Garcia-Cazorla A, et al. Among authors: de lonlay p. J Pediatr. 2006 Sep;149(3):401-405. doi: 10.1016/j.jpeds.2006.05.036. J Pediatr. 2006. PMID: 16939756

8

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.

de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chrétien D, Chadefeaux-Vekemans B, Niaudet P, Touati G, Munnich A, de Lonlay P. de Keyzer Y, et al. Among authors: de lonlay p. Pediatr Res. 2009 Jul;66(1):91-5. doi: 10.1203/PDR.0b013e3181a7c270. Pediatr Res. 2009. PMID: 19342984

9

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

10

Cardiomyopathies in propionic aciduria are reversible after liver transplantation.

Romano S, Valayannopoulos V, Touati G, Jais JP, Rabier D, de Keyzer Y, Bonnet D, de Lonlay P. Romano S, et al. Among authors: de keyzer y, de lonlay p. J Pediatr. 2010 Jan;156(1):128-34. doi: 10.1016/j.jpeds.2009.07.002. J Pediatr. 2010. PMID: 19818452

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