Saudubray JM - Search Results

1

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: saudubray jm. Neuromuscul Disord. 1995 Jul;5(4):285-9. doi: 10.1016/0960-8966(94)00071-g. Neuromuscul Disord. 1995. PMID: 7580240

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

[Sulfite oxidase deficiency presenting as Leigh syndrome].

Amiel J, Gagey V, Rabier D, Dorche C, Bonnefont JP, Dufier JL, Saudubray JM, Rey J, Munnich A. Amiel J, et al. Among authors: saudubray jm. Arch Pediatr. 1994 Nov;1(11):1023-7. Arch Pediatr. 1994. PMID: 7834040 French.

4

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.

Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogler H, Schmitz J, Ricour C, Saudubray JM, Munnich A, Rötig A. Cormier-Daire V, et al. Among authors: saudubray jm. J Pediatr. 1994 Jan;124(1):63-70. doi: 10.1016/s0022-3476(94)70255-1. J Pediatr. 1994. PMID: 8283377

5

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

Rötig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A. Rötig A, et al. Among authors: saudubray jm. J Clin Invest. 1993 Mar;91(3):1095-8. doi: 10.1172/JCI116267. J Clin Invest. 1993. PMID: 8383698 Free PMC article.

6

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.

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

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.

de Lonlay-Debeney P, Edery P, Cormier-Daire V, Parfait B, Chrétien D, Rötig A, Romero N, Saudubray JM, Munnich A, Rustin P. de Lonlay-Debeney P, et al. Among authors: saudubray jm. Neuropediatrics. 1999 Feb;30(1):42-4. doi: 10.1055/s-2007-973456. Neuropediatrics. 1999. PMID: 10222461

9

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.

de Lonlay-Debeney P, von Kleist-Retzow JC, Hertz-Pannier L, Peudenier S, Cormier-Daire V, Berquin P, Chrétien D, Rötig A, Saudubray JM, Baraton J, Brunelle F, Rustin P, Van Der Knaap M, Munnich A. de Lonlay-Debeney P, et al. Among authors: saudubray jm. J Pediatr. 2000 Feb;136(2):209-14. doi: 10.1016/s0022-3476(00)70103-x. J Pediatr. 2000. PMID: 10657827

10

Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.

Thuillier L, Sevin C, Demaugre F, Brivet M, Rabier D, Droin V, Aupetit J, Abadi N, Kamoun P, Saudubray JM, Bonnefont JP. Thuillier L, et al. Among authors: saudubray jm. Neuromuscul Disord. 2000 Mar;10(3):200-5. doi: 10.1016/s0960-8966(99)00096-6. Neuromuscul Disord. 2000. PMID: 10734268

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

434 results

Search Page

Filters