Ogier de Baulny H - Search Results

1

[Lysinuric dibasic protein intolerance: characteristic aspects of bone marrow involvement].

Doireau V, Fenneteau O, Duval M, Perelman S, Vilmer E, Touati G, Schlegel N, Ogier de Baulny H. Doireau V, et al. Among authors: ogier de baulny h. Arch Pediatr. 1996 Sep;3(9):877-80. doi: 10.1016/0929-693x(96)87577-4. Arch Pediatr. 1996. PMID: 8949349 French.

2

[Hematologic manifestations of inborn errors of metabolism].

de Lonlay P, Fenneteau O, Touati G, Mignot C, Billette de Villemeur T, Rabier D, Blanche S, Ogier de Baulny H, Saudubray JM. de Lonlay P, et al. Among authors: ogier de baulny h. Arch Pediatr. 2002 Aug;9(8):822-35. doi: 10.1016/s0929-693x(02)00005-2. Arch Pediatr. 2002. PMID: 12205794 Review. French.

3

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.

Ogier de Baulny H, Slama A, Touati G, Turnbull DM, Pourfarzam M, Brivet M. Ogier de Baulny H, et al. J Pediatr. 1995 Nov;127(5):723-8. doi: 10.1016/s0022-3476(95)70160-5. J Pediatr. 1995. PMID: 7472823

4

In vivo functional investigations of lactic acid in patients with respiratory chain disorders.

Touati G, Rigal O, Lombès A, Frachon P, Giraud M, Ogier de Baulny H. Touati G, et al. Among authors: ogier de baulny h. Arch Dis Child. 1997 Jan;76(1):16-21. doi: 10.1136/adc.76.1.16. Arch Dis Child. 1997. PMID: 9059154 Free PMC article.

5

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

Acquaviva C, Benoist JF, Callebaut I, Guffon N, Ogier de Baulny H, Touati G, Aydin A, Porquet D, Elion J. Acquaviva C, et al. Among authors: ogier de baulny h. Eur J Hum Genet. 2001 Aug;9(8):577-82. doi: 10.1038/sj.ejhg.5200675. Eur J Hum Genet. 2001. PMID: 11528502

6

Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

Touati G, Valayannopoulos V, Mention K, de Lonlay P, Jouvet P, Depondt E, Assoun M, Souberbielle JC, Rabier D, Ogier de Baulny H, Saudubray JM. Touati G, et al. Among authors: ogier de baulny h, de lonlay p. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):288-98. doi: 10.1007/s10545-006-0351-7. J Inherit Metab Dis. 2006. PMID: 16763890

7

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria.

Touati G, Poggi-Travert F, Ogier de Baulny H, Rahier J, Brunelle F, Nihoul-Fekete C, Czernichow P, Saudubray JM. Touati G, et al. Among authors: ogier de baulny h. Eur J Pediatr. 1998 Aug;157(8):628-33. doi: 10.1007/s004310050900. Eur J Pediatr. 1998. PMID: 9727845

8

Morphological studies of skeletal muscle in lactic acidosis.

Romero NB, Lombès A, Touati G, Rigal O, Frachon P, Cheval MA, Giraud M, Possekel S, Fardeau M, Ogier de Baulny H. Romero NB, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 1996;19(4):528-34. doi: 10.1007/BF01799113. J Inherit Metab Dis. 1996. PMID: 8884576 Review.

9

Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.

Ogier de Baulny H, Schiff M, Dionisi-Vici C. Ogier de Baulny H, et al. Mol Genet Metab. 2012 May;106(1):12-7. doi: 10.1016/j.ymgme.2012.02.010. Epub 2012 Feb 17. Mol Genet Metab. 2012. PMID: 22402328 Review.

10

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778

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