de Lonlay P - Search Results

1

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.

Husson MC, Schiff M, Fouilhoux A, Cano A, Dobbelaere D, Brassier A, Mention K, Arnoux JB, Feillet F, Chabrol B, Guffon N, Elie C, de Lonlay P. Husson MC, et al. Among authors: de lonlay p. Orphanet J Rare Dis. 2016 Sep 23;11(1):127. doi: 10.1186/s13023-016-0513-0. Orphanet J Rare Dis. 2016. PMID: 27663197 Free PMC article.

2

[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism].

Boddaert N, Ribeiro M, Touati G, Mention K, Valayanopoulos V, Nihoul-Fékété C, Brunelle F, de Lonlay P. Boddaert N, et al. Among authors: de lonlay p. Med Sci (Paris). 2005 Nov;21(11):981-6. doi: 10.1051/medsci/20052111981. Med Sci (Paris). 2005. PMID: 16274650 Free article. Review. French.

3

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

Valayannopoulos V, Verhoeven NM, Mention K, Salomons GS, Sommelet D, Gonzales M, Touati G, de Lonlay P, Jakobs C, Saudubray JM. Valayannopoulos V, et al. Among authors: de lonlay p. J Pediatr. 2006 Nov;149(5):713-7. doi: 10.1016/j.jpeds.2006.08.016. J Pediatr. 2006. PMID: 17095351

4

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.

5

Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.

Bahi-Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, Heinrichs C, Chadefaux-Vekemans B, Dan B, de Lonlay P. Bahi-Buisson N, et al. Among authors: de lonlay p. Dev Med Child Neurol. 2008 Dec;50(12):945-9. doi: 10.1111/j.1469-8749.2008.03114.x. Dev Med Child Neurol. 2008. PMID: 19046187 Free article.

6

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Valayannopoulos V, Haudry C, Serre V, Barth M, Boddaert N, Arnoux JB, Cormier-Daire V, Rio M, Rabier D, Vassault A, Munnich A, Bonnefont JP, de Lonlay P, Rötig A, Lebre AS. Valayannopoulos V, et al. Among authors: de lonlay p. Mitochondrion. 2010 Jun;10(4):335-41. doi: 10.1016/j.mito.2010.02.006. Epub 2010 Mar 1. Mitochondrion. 2010. PMID: 20197121

7

Congenital hyperinsulinism.

Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V, Robert JJ, Rahier J, Sempoux C, Bellanné C, Verkarre V, Aigrain Y, Jaubert F, Brunelle F, Nihoul-Fékété C. Arnoux JB, et al. Among authors: de lonlay p. Early Hum Dev. 2010 May;86(5):287-94. doi: 10.1016/j.earlhumdev.2010.05.003. Epub 2010 Jun 13. Early Hum Dev. 2010. PMID: 20550977 Review.

8

KATP channel mutations in congenital hyperinsulinism.

Saint-Martin C, Arnoux JB, de Lonlay P, Bellanné-Chantelot C. Saint-Martin C, et al. Among authors: de lonlay p. Semin Pediatr Surg. 2011 Feb;20(1):18-22. doi: 10.1053/j.sempedsurg.2010.10.012. Semin Pediatr Surg. 2011. PMID: 21185999 Review.

9

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

10

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.

Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P. Valayannopoulos V, et al. Among authors: de lonlay p. Pediatr Res. 2011 Dec;70(6):638-41. doi: 10.1203/PDR.0b013e318232154f. Pediatr Res. 2011. PMID: 21857385

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