Smeitink J - Search Results

1

Mitochondrial medicine: entering the era of treatment.

Koene S, Smeitink J. Koene S, et al. Among authors: smeitink j. J Intern Med. 2009 Feb;265(2):193-209. doi: 10.1111/j.1365-2796.2008.02058.x. J Intern Med. 2009. PMID: 19192036 Free article. Review.

2

Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex.

Trijbels FJ, Ruitenbeek W, Huizing M, Wendel U, Smeitink JA, Sengers RC. Trijbels FJ, et al. Among authors: smeitink ja. Mol Cell Biochem. 1997 Sep;174(1-2):243-7. Mol Cell Biochem. 1997. PMID: 9309695 Review.

3

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.

Rubio-Gozalbo ME, Dijkman KP, van den Heuvel LP, Sengers RC, Wendel U, Smeitink JA. Rubio-Gozalbo ME, et al. Among authors: smeitink ja. Hum Mutat. 2000;15(6):522-32. doi: 10.1002/1098-1004(200006)15:6<522::AID-HUMU4>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 10862082

4

The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.

van den Heuvel L, Smeitink J. van den Heuvel L, et al. Among authors: smeitink j. Bioessays. 2001 Jun;23(6):518-25. doi: 10.1002/bies.1071. Bioessays. 2001. PMID: 11385631 Review.

5

Respiratory chain complex I deficiency.

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

6

Mitochondrial oxidative phosphorylation system assembly in man: recent achievements.

Coenen MJ, van den Heuvel LP, Smeitink JA. Coenen MJ, et al. Among authors: smeitink ja. Curr Opin Neurol. 2001 Dec;14(6):777-81. doi: 10.1097/00019052-200112000-00016. Curr Opin Neurol. 2001. PMID: 11723388 Review.

7

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children.

Wolf NI, Smeitink JA. Wolf NI, et al. Neurology. 2002 Nov 12;59(9):1402-5. doi: 10.1212/01.wnl.0000031795.91814.d8. Neurology. 2002. PMID: 12427891

8

Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.

van der Westhuizen FH, van den Heuvel LP, Smeets R, Veltman JA, Pfundt R, van Kessel AG, Ursing BM, Smeitink JA. van der Westhuizen FH, et al. Among authors: smeitink ja. Neuropediatrics. 2003 Feb;34(1):14-22. doi: 10.1055/s-2003-38618. Neuropediatrics. 2003. PMID: 12690563

9

Mitochondrial disorders: clinical presentation and diagnostic dilemmas.

Smeitink JA. Smeitink JA. J Inherit Metab Dis. 2003;26(2-3):199-207. doi: 10.1023/a:1024489218004. J Inherit Metab Dis. 2003. PMID: 12889661 Review.

10

Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.

Niers L, van den Heuvel L, Trijbels F, Sengers R, Smeitink J; Nijmegen Centre for Mitochondrial Disorders, The Netherlands. Niers L, et al. Among authors: smeitink j. J Inherit Metab Dis. 2003;26(7):647-58. doi: 10.1023/b:boli.0000005605.57420.b4. J Inherit Metab Dis. 2003. PMID: 14707513 Review.

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