Rabier D - Search Results

1

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: rabier d. Pediatrics. 1999 Feb;103(2):428-33. doi: 10.1542/peds.103.2.428. Pediatrics. 1999. PMID: 9925836

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

3

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset.

Cormier V, Rustin P, Bonnefont JP, Rambaud C, Vassault A, Rabier D, Parvy P, Couderc S, Parrot-Roulaud F, Carré M, et al. Cormier V, et al. Among authors: rabier d. J Pediatr. 1991 Dec;119(6):951-4. doi: 10.1016/s0022-3476(05)83054-9. J Pediatr. 1991. PMID: 1960616 No abstract available.

4

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.

Edery P, Gérard B, Chretien D, Rötig A, Cerrone R, Rabier D, Rambaud C, Fabre M, Saudubray JM, Munnich A, et al. Edery P, et al. Among authors: rabier d. Eur J Pediatr. 1994 Mar;153(3):190-4. doi: 10.1007/BF01958984. Eur J Pediatr. 1994. PMID: 8181505

5

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.

Parfait B, de Lonlay P, von Kleist-Retzow JC, Cormier-Daire V, Chrétien D, Rötig A, Rabier D, Saudubray JM, Rustin P, Munnich A. Parfait B, et al. Among authors: rabier d. Eur J Pediatr. 1999 Jan;158(1):55-8. doi: 10.1007/s004310051009. Eur J Pediatr. 1999. PMID: 9950309

6

Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.

Spada M, Guardamagna O, Rabier D, van der Meer SB, Parvy P, Bardet J, Ponzone A, Saudubray JM. Spada M, et al. Among authors: rabier d. J Pediatr. 1994 Aug;125(2):249-51. doi: 10.1016/s0022-3476(94)70205-5. J Pediatr. 1994. PMID: 8040774

7

Biomarkers identified in inborn errors for lysine, arginine, and ornithine.

Saudubray JM, Rabier D. Saudubray JM, et al. Among authors: rabier d. J Nutr. 2007 Jun;137(6 Suppl 2):1669S-1672S. doi: 10.1093/jn/137.6.1669S. J Nutr. 2007. PMID: 17513445 Free article. Review.

8

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria.

Saunier P, Chretien D, Wood C, Rötig A, Bonnefont JP, Saudubray JM, Rabier D, Munnich A, Rustin P. Saunier P, et al. Among authors: rabier d. Neuromuscul Disord. 1995 Jul;5(4):285-9. doi: 10.1016/0960-8966(94)00071-g. Neuromuscul Disord. 1995. PMID: 7580240

9

[Diagnosis of metabolic coma in children].

Poggi-Travert F, Héron B, Billette de Villemeur T, Spada M, Jouvet P, Charpentier C, Rabier D, Kamoun P, Saudubray JM. Poggi-Travert F, et al. Among authors: rabier d. Arch Pediatr. 1994 Sep;1(9):843-51. Arch Pediatr. 1994. PMID: 7842129 Review. French.

10

[Protocol of metabolic investigations in hereditary metabolic diseases].

Poggi F, Rabier D, Vassault A, Charpentier C, Kamoun P, Saudubray JM. Poggi F, et al. Among authors: rabier d. Arch Pediatr. 1994 Jul;1(7):667-73. Arch Pediatr. 1994. PMID: 7987467 French.

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