Duran M - Search Results

1

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.

Suormala T, Fowler B, Jakobs C, Duran M, Lehnert W, Raab K, Wick H, Baumgartner ER. Suormala T, et al. Among authors: duran m. Eur J Pediatr. 1998 Jul;157(7):570-5. doi: 10.1007/s004310050881. Eur J Pediatr. 1998. PMID: 9686819

2

Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.

Fuchshuber A, Suormala T, Roth B, Duran M, Michalk D, Baumgartner ER. Fuchshuber A, et al. Among authors: duran m. Eur J Pediatr. 1993 May;152(5):446-9. doi: 10.1007/BF01955908. Eur J Pediatr. 1993. PMID: 8319716

3

Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.

Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R. Suormala T, et al. Among authors: duran m. Pediatr Res. 1997 May;41(5):666-73. doi: 10.1203/00006450-199705000-00011. Pediatr Res. 1997. PMID: 9128289

4

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.

Steen C, Baumgartner ER, Duran M, Lehnert W, Suormala T, Fingerhut R, Stehn M, Kohlschütter A. Steen C, et al. Among authors: duran m. Eur J Pediatr. 1999 Sep;158(9):730-3. doi: 10.1007/s004310051189. Eur J Pediatr. 1999. PMID: 10485305

5

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

Santer R, Muhle H, Suormala T, Baumgartner ER, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U. Santer R, et al. Among authors: duran m. Mol Genet Metab. 2003 Jul;79(3):160-6. doi: 10.1016/s1096-7192(03)00091-x. Mol Genet Metab. 2003. PMID: 12855220

6

Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion.

van der Klei-van Moorsel JM, Smit LM, Brockstedt M, Jakobs C, Dorche C, Duran M. van der Klei-van Moorsel JM, et al. Among authors: duran m. Eur J Pediatr. 1991 Jan;150(3):196-7. doi: 10.1007/BF01963565. Eur J Pediatr. 1991. PMID: 2044591

7

Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.

Jakobs C, Sweetman L, Wadman SK, Duran M, Saudubray JM, Nyhan WL. Jakobs C, et al. Among authors: duran m. Eur J Pediatr. 1984 Jan;141(3):153-7. doi: 10.1007/BF00443213. Eur J Pediatr. 1984. PMID: 6698061

8

Cerebrospinal fluid organic acids in biotinidase deficiency.

Duran M, Baumgartner ER, Suormala TM, Bruinvis L, Dorland L, Smeitink JA, Poll-The BT. Duran M, et al. J Inherit Metab Dis. 1993;16(3):513-6. doi: 10.1007/BF00711668. J Inherit Metab Dis. 1993. PMID: 7609439 Clinical Trial. No abstract available.

9

The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency.

Jakobs C, Stellaard F, Smit LM, van Vugt JM, Duran M, Berger R, Rovers P. Jakobs C, et al. Among authors: duran m. Eur J Pediatr. 1991 Feb;150(4):291. doi: 10.1007/BF01955535. Eur J Pediatr. 1991. PMID: 2029924 No abstract available.

10

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.

de Klerk JB, Huijmans JG, Stroink H, Robben SG, Jakobs C, Duran M. de Klerk JB, et al. Among authors: duran m. Neuropediatrics. 1997 Dec;28(6):314-7. doi: 10.1055/s-2007-973722. Neuropediatrics. 1997. PMID: 9453028

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