Saudubray JM - Search Results

1

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.

Ogier H, Lombes A, Scholte HR, Poll-The BT, Fardeau M, Alcardi J, Vignes B, Niaudet P, Saudubray JM. Ogier H, et al. Among authors: saudubray jm. J Pediatr. 1988 May;112(5):734-9. doi: 10.1016/s0022-3476(88)80690-5. J Pediatr. 1988. PMID: 2834526

2

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: saudubray jm. Eur J Pediatr. 1994 Mar;153(3):190-4. doi: 10.1007/BF01958984. Eur J Pediatr. 1994. PMID: 8181505

3

The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.

Bonnefont JP, Specola NB, Vassault A, Lombes A, Ogier H, de Klerk JB, Munnich A, Coude M, Paturneau-Jouas M, Saudubray JM. Bonnefont JP, et al. Among authors: saudubray jm. Eur J Pediatr. 1990 Dec;150(2):80-5. doi: 10.1007/BF02072043. Eur J Pediatr. 1990. PMID: 2279514

4

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

Poll-The BT, Saudubray JM, Ogier HA, Odièvre M, Scotto JM, Monnens L, Govaerts LC, Roels F, Cornelis A, Schutgens RB, et al. Poll-The BT, et al. Among authors: saudubray jm. Eur J Pediatr. 1987 Sep;146(5):477-83. doi: 10.1007/BF00441598. Eur J Pediatr. 1987. PMID: 2445576

5

[Research methods in metabolic myopathies in children].

Lombes A, Ogier H, Bonnefont JP, Munnich A, Saudubray JM. Lombes A, et al. Among authors: saudubray jm. Ann Med Interne (Paris). 1987;138(6):441-3. Ann Med Interne (Paris). 1987. PMID: 3324848 Review. French. No abstract available.

6

Clinical outcome and long-term management of 17 patients with propionic acidaemia.

van der Meer SB, Poggi F, Spada M, Bonnefont JP, Ogier H, Hubert P, Depondt E, Rapoport D, Rabier D, Charpentier C, Parvy P, Bardet J, Kamoun P, Saudubray JM. van der Meer SB, et al. Among authors: saudubray jm. Eur J Pediatr. 1996 Mar;155(3):205-10. doi: 10.1007/BF01953939. Eur J Pediatr. 1996. PMID: 8929729

7

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

8

Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts.

Poll-The BT, Billette de Villemeur T, Abitbol M, Dufier JL, Saudubray JM. Poll-The BT, et al. Among authors: saudubray jm. Eur J Pediatr. 1992 Jan;151(1):2-11. doi: 10.1007/BF02073880. Eur J Pediatr. 1992. PMID: 1728538 Review.

9

[Clinical aspects of hereditary peroxisomal disorders].

Billette de Villemeur T, Poll The BT, Saudubray JM. Billette de Villemeur T, et al. Among authors: saudubray jm. Minerva Pediatr. 1991 Mar;43(3):115-23. Minerva Pediatr. 1991. PMID: 1870505 Review. French. No abstract available.

10

Intellectual and school performances in early-treated classical PKU patients. The French collaborative study.

Saudubray JM, Rey F, Ogier H, Abadie V, Farriaux JP, Ghisolfi J, Guibaud P, Rey J, Vidailhet M. Saudubray JM, et al. Eur J Pediatr. 1987;146 Suppl 1:A20-2. doi: 10.1007/BF00442051. Eur J Pediatr. 1987. PMID: 3691573 No abstract available.

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