Saudubray JM - Search Results

1

Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

Fournier B, Saudubray JM, Benichou B, Lyonnet S, Munnich A, Clevers H, Poll-The BT. Fournier B, et al. Among authors: saudubray jm. J Clin Invest. 1994 Aug;94(2):526-31. doi: 10.1172/JCI117365. J Clin Invest. 1994. PMID: 8040306 Free PMC article.

2

Peroxisomal disorders: a review.

Fournier B, Smeitink JA, Dorland L, Berger R, Saudubray JM, Poll-The BT. Fournier B, et al. Among authors: saudubray jm. J Inherit Metab Dis. 1994;17(4):470-86. doi: 10.1007/BF00711362. J Inherit Metab Dis. 1994. PMID: 7967497 Review.

3

Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data.

De Craemer D, Zweens MJ, Lyonnet S, Wanders RJ, Poll-The BT, Schutgens RB, Waelkens JJ, Saudubray JM, Roels F. De Craemer D, et al. Among authors: saudubray jm. Virchows Arch A Pathol Anat Histopathol. 1991;419(6):523-5. doi: 10.1007/BF01650683. Virchows Arch A Pathol Anat Histopathol. 1991. PMID: 1750197

4

Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase.

ten Brink HJ, Poll-The BT, Saudubray JM, Wanders RJ, Jakobs C. ten Brink HJ, et al. Among authors: saudubray jm. J Inherit Metab Dis. 1991;14(5):681-4. doi: 10.1007/BF01799934. J Inherit Metab Dis. 1991. PMID: 1779614

5

Bile acids in peroxisomal disorders.

Van Eldere JR, Parmentier GG, Eyssen HJ, Wanders RJ, Schutgens RB, Vamecq J, Van Hoof F, Poll-The BT, Saudubray JM. Van Eldere JR, et al. Among authors: saudubray jm. Eur J Clin Invest. 1987 Oct;17(5):386-90. doi: 10.1111/j.1365-2362.1987.tb01131.x. Eur J Clin Invest. 1987. PMID: 2446876

6

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.

7

Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease.

Wanders RJ, Heymans HS, Schutgens RB, Poll-Thé BT, Saudubray JM, Tager JM, Schrakamp G, van den Bosch H. Wanders RJ, et al. Among authors: saudubray jm. J Neurol Sci. 1988 Apr;84(2-3):147-55. doi: 10.1016/0022-510x(88)90120-7. J Neurol Sci. 1988. PMID: 2454298

8

Clinical approach to inherited peroxisomal disorders.

Poggi-Travert F, Fournier B, Poll-The BT, Saudubray JM. Poggi-Travert F, et al. Among authors: saudubray jm. J Inherit Metab Dis. 1995;18 Suppl 1:1-18. doi: 10.1007/BF00711425. J Inherit Metab Dis. 1995. PMID: 9053544 Review.

9

In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.

Jakobs C, Kneer J, Martin D, Boulloche J, Brivet M, Poll-The BT, Saudubray JM. Jakobs C, et al. Among authors: saudubray jm. Eur J Pediatr. 1997 Aug;156 Suppl 1:S78-82. Eur J Pediatr. 1997. PMID: 9266222

10

The metabolism of phytanic acid and pristanic acid in man: a review.

Verhoeven NM, Wanders RJ, Poll-The BT, Saudubray JM, Jakobs C. Verhoeven NM, et al. Among authors: saudubray jm. J Inherit Metab Dis. 1998 Oct;21(7):697-728. doi: 10.1023/a:1005476631419. J Inherit Metab Dis. 1998. PMID: 9819701 Review.

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