Saudubray JM - Search Results

1

Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients.

García-Cazorla A, De Lonlay P, Nassogne MC, Rustin P, Touati G, Saudubray JM. García-Cazorla A, et al. Among authors: saudubray jm. Pediatrics. 2005 Nov;116(5):1170-7. doi: 10.1542/peds.2004-2407. Pediatrics. 2005. PMID: 16264005

2

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: saudubray jm. J Pediatr. 2006 Sep;149(3):401-405. doi: 10.1016/j.jpeds.2006.05.036. J Pediatr. 2006. PMID: 16939756

3

Clinical presentations and laboratory investigations in respiratory chain deficiency.

Munnich A, Rötig A, Chretien D, Saudubray JM, Cormier V, Rustin P. Munnich A, et al. Among authors: saudubray jm. Eur J Pediatr. 1996 Apr;155(4):262-74. doi: 10.1007/BF02002711. Eur J Pediatr. 1996. PMID: 8777918 Review.

4

Hair and skin disorders as signs of mitochondrial disease.

Bodemer C, Rötig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, Rabier D, Munnich A, de Prost Y. Bodemer C, et al. Among authors: saudubray jm. Pediatrics. 1999 Feb;103(2):428-33. doi: 10.1542/peds.103.2.428. Pediatrics. 1999. PMID: 9925836

5

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.

Menni F, de Lonlay P, Sevin C, Touati G, Peigné C, Barbier V, Nihoul-Fékété C, Saudubray JM, Robert JJ. Menni F, et al. Among authors: saudubray jm. Pediatrics. 2001 Mar;107(3):476-9. doi: 10.1542/peds.107.3.476. Pediatrics. 2001. PMID: 11230585

6

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.

de Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C, Delagne V, Mayaud C, Chigot V, Sempoux C, Brusset MC, Laborde K, Bellane-Chantelot C, Vassault A, Rahier J, Junien C, Brunelle F, Nihoul-Fékété C, Saudubray JM, Robert JJ. de Lonlay P, et al. Among authors: saudubray jm. Eur J Pediatr. 2002 Jan;161(1):37-48. doi: 10.1007/s004310100847. Eur J Pediatr. 2002. PMID: 11808879 Review.

7

Antenatal manifestations of mitochondrial respiratory chain deficiency.

von Kleist-Retzow JC, Cormier-Daire V, Viot G, Goldenberg A, Mardach B, Amiel J, Saada P, Dumez Y, Brunelle F, Saudubray JM, Chrétien D, Rötig A, Rustin P, Munnich A, De Lonlay P. von Kleist-Retzow JC, et al. Among authors: saudubray jm. J Pediatr. 2003 Aug;143(2):208-12. doi: 10.1067/S0022-3476(03)00130-6. J Pediatr. 2003. PMID: 12970634

8

Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy.

Giurgea I, Ulinski T, Touati G, Sempoux C, Mochel F, Brunelle F, Saudubray JM, Fekete C, de Lonlay P. Giurgea I, et al. Among authors: saudubray jm. Pediatrics. 2005 Jul;116(1):e145-8. doi: 10.1542/peds.2004-2331. Pediatrics. 2005. PMID: 15995015

9

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: saudubray jm. Ann Neurol. 2006 Jan;59(1):121-7. doi: 10.1002/ana.20709. Ann Neurol. 2006. PMID: 16278852

10

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: saudubray jm. J Pediatr. 2006 Nov;149(5):713-7. doi: 10.1016/j.jpeds.2006.08.016. J Pediatr. 2006. PMID: 17095351

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