Trijbels JM - Search Results

1

Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency.

Niers LE, Smeitink JA, Trijbels JM, Sengers RC, Janssen AJ, van den Heuvel LP. Niers LE, et al. Among authors: trijbels jm. Prenat Diagn. 2001 Oct;21(10):871-80. doi: 10.1002/pd.162. Prenat Diagn. 2001. PMID: 11746133

2

The use of chorionic villi in prenatal diagnosis of mitochondriopathies.

Ruitenbeek W, Sengers RC, Trijbels JM, Janssen AJ, Bakkeren JA. Ruitenbeek W, et al. Among authors: trijbels jm. J Inherit Metab Dis. 1992;15(3):303-6. doi: 10.1007/BF02435962. J Inherit Metab Dis. 1992. PMID: 1328761 No abstract available.

3

Clinical heterogeneity in respiratory chain complex III deficiency in childhood.

Mourmans J, Wendel U, Bentlage HA, Trijbels JM, Smeitink JA, de Coo IF, Gabreëls FJ, Sengers RC, Ruitenbeek W. Mourmans J, et al. Among authors: trijbels jm. J Neurol Sci. 1997 Jul;149(1):111-7. doi: 10.1016/s0022-510x(97)05379-3. J Neurol Sci. 1997. PMID: 9168175

4

Systemic infantile complex I deficiency with fatal outcome in two brothers.

Rubio-Gozalbo ME, Ruitenbeek W, Wendel U, Sengers RC, Trijbels JM, Smeitink JA. Rubio-Gozalbo ME, et al. Among authors: trijbels jm. Neuropediatrics. 1998 Feb;29(1):43-5. doi: 10.1055/s-2007-973533. Neuropediatrics. 1998. PMID: 9553949

5

cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.

Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA. Loeffen JL, et al. Among authors: trijbels jm. Biochem Biophys Res Commun. 1998 Dec 18;253(2):415-22. doi: 10.1006/bbrc.1998.9786. Biochem Biophys Res Commun. 1998. PMID: 9878551

6

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP. Loeffen JL, et al. Among authors: trijbels jm. Hum Mutat. 2000;15(2):123-34. doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. Hum Mutat. 2000. PMID: 10649489 Review.

7

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.

Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA. Budde SM, et al. Among authors: trijbels jm. Biochem Biophys Res Commun. 2000 Aug 18;275(1):63-8. doi: 10.1006/bbrc.2000.3257. Biochem Biophys Res Commun. 2000. PMID: 10944442

8

Respiratory chain complex I deficiency.

Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA. Triepels RH, et al. Among authors: trijbels jm. Am J Med Genet. 2001 Spring;106(1):37-45. doi: 10.1002/ajmg.1397. Am J Med Genet. 2001. PMID: 11579423 Review.

9

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.

Wanders RJ, Wijburg FA, Ruiter J, Trijbels JM, Ruitenbeek W, Sengers RC, Bakkeren JA, Feller N. Wanders RJ, et al. Among authors: trijbels jm. J Inherit Metab Dis. 1992;15(1):84-91. doi: 10.1007/BF01800349. J Inherit Metab Dis. 1992. PMID: 1316525

10

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Sperl W, Ruitenbeek W, Kerkhof CM, Sengers RC, Trijbels JM, Guggenbichler JP, Janssen AJ, Bakkeren JA. Sperl W, et al. Among authors: trijbels jm. Eur J Pediatr. 1990 Apr;149(7):487-92. doi: 10.1007/BF01959401. Eur J Pediatr. 1990. PMID: 2189731 Review.

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