Rolland MO - Search Results

1

NTBC treatment in tyrosinaemia type I: long-term outcome in French patients.

Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, Sarles J, de Baulny HO, Touati G. Masurel-Paulet A, et al. Among authors: rolland mo. J Inherit Metab Dis. 2008 Feb;31(1):81-7. doi: 10.1007/s10545-008-0793-1. Epub 2008 Jan 25. J Inherit Metab Dis. 2008. PMID: 18214711

2

A new case of 2-methylacetoacetyl-CoA thiolase deficiency?

Renom G, Fontaine M, Rolland MO, Duprey J, Degand PM, Dobbelaere D. Renom G, et al. Among authors: rolland mo. J Inherit Metab Dis. 2000 Nov;23(7):751-3. doi: 10.1023/a:1005655619236. J Inherit Metab Dis. 2000. PMID: 11117436 No abstract available.

3

[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].

Pierron S, Giudicelli H, Moreigne M, Khalfi A, Touati G, Caruba C, Rolland MO, Acquaviva C. Pierron S, et al. Among authors: rolland mo. Arch Pediatr. 2010 Jan;17(1):10-3. doi: 10.1016/j.arcped.2009.09.022. Epub 2009 Nov 22. Arch Pediatr. 2010. PMID: 19932602 French.

4

Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line.

Bachir Bioukar E, Straehli F, Ng KH, Rolland MO, Hashimoto T, Carreau JP, Deschatrette J. Bachir Bioukar E, et al. Among authors: rolland mo. J Inherit Metab Dis. 1994;17(1):41-59. doi: 10.1007/BF00735394. J Inherit Metab Dis. 1994. PMID: 7519689

5

Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia.

Neuberger JM, Schweitzer S, Rolland MO, Burghard R. Neuberger JM, et al. Among authors: rolland mo. J Inherit Metab Dis. 2000 Feb;23(1):22-6. doi: 10.1023/a:1005642728513. J Inherit Metab Dis. 2000. PMID: 10682305

6

Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency.

Fontaine M, Briand G, Ser N, Armelin I, Rolland MO, Degand P, Vamecq J. Fontaine M, et al. Among authors: rolland mo. Clin Chim Acta. 1996 Nov 15;255(1):67-83. doi: 10.1016/0009-8981(96)06391-7. Clin Chim Acta. 1996. PMID: 8930414

7

Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.

Sperandeo MP, Candito M, Sebastio G, Rolland MO, Turc-Carel C, Giudicelli H, Dellamonica P, Andria G. Sperandeo MP, et al. Among authors: rolland mo. J Inherit Metab Dis. 1996;19(3):351-6. doi: 10.1007/BF01799266. J Inherit Metab Dis. 1996. PMID: 8803779

8

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.

Nadal N, Rolland MO, Tranchant C, Reutenauer L, Gyapay G, Warter JM, Mandel JL, Koenig M. Nadal N, et al. Among authors: rolland mo. Hum Mol Genet. 1995 Oct;4(10):1963-6. doi: 10.1093/hmg/4.10.1963. Hum Mol Genet. 1995. PMID: 8595422

9

Seventeen novel mutations that cause profound biotinidase deficiency.

Wolf B, Jensen K, Hüner G, Demirkol M, Baykal T, Divry P, Rolland MO, Perez-Cerdá C, Ugarte M, Straussberg R, Basel-Vanagaite L, Baumgartner ER, Suormala T, Scholl S, Das AM, Schweitzer S, Pronicka E, Sykut-Cegielska J. Wolf B, et al. Among authors: rolland mo. Mol Genet Metab. 2002 Sep-Oct;77(1-2):108-11. doi: 10.1016/s1096-7192(02)00149-x. Mol Genet Metab. 2002. PMID: 12359137

10

Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.

Cartier N, Lopez J, Moullier P, Rocchiccioli F, Rolland MO, Jorge P, Mosser J, Mandel JL, Bougnères PF, Danos O, et al. Cartier N, et al. Among authors: rolland mo. Proc Natl Acad Sci U S A. 1995 Feb 28;92(5):1674-8. doi: 10.1073/pnas.92.5.1674. Proc Natl Acad Sci U S A. 1995. PMID: 7878038 Free PMC article.

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