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Monogenic mitochondrial disorders.
Koopman WJ, Willems PH, Smeitink JA. Koopman WJ, et al. Among authors: smeitink ja. N Engl J Med. 2012 Mar 22;366(12):1132-41. doi: 10.1056/NEJMra1012478. N Engl J Med. 2012. PMID: 22435372 Review. No abstract available.
Human mitochondrial complex I in health and disease.
Smeitink J, van den Heuvel L. Smeitink J, et al. Am J Hum Genet. 1999 Jun;64(6):1505-10. doi: 10.1086/302432. Am J Hum Genet. 1999. PMID: 10330338 Free PMC article. Review. No abstract available.
Mitochondrial disease: needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phase.
Noorda G, Hermans-Peters M, Smeitink J, van Achterberg T, Kemps H, Goverde W, Schoonhoven L. Noorda G, et al. J Inherit Metab Dis. 2007 Jun;30(3):333-40. doi: 10.1007/s10545-007-0426-0. Epub 2007 May 11. J Inherit Metab Dis. 2007. PMID: 17508266 Free PMC article.
Tall stature and progressive overweight in mitochondrial encephalopathy.
Morava E, Hol FA, Janssen A, Smeitink J. Morava E, et al. J Inherit Metab Dis. 2003;26(7):720-2. doi: 10.1023/b:boli.0000005647.71704.25. J Inherit Metab Dis. 2003. PMID: 14707524
Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria.
Smeitink J, Ruitenbeek W, Sengers R, Wevers R, van Lith T, Trijbels F. Smeitink J, et al. J Inherit Metab Dis. 1994;17(1):67-73. doi: 10.1007/BF00735397. J Inherit Metab Dis. 1994. PMID: 8051938
A method for quantitative measurement of mitochondrial creatine kinase in human skeletal muscle.
Smeitink J, Wevers R, Hulshof J, Ruitenbeek W, van Lith T, Sengers R, Trijbels F, Korenke C, Wallimann T. Smeitink J, et al. Ann Clin Biochem. 1992 Mar;29 ( Pt 2):196-201. doi: 10.1177/000456329202900213. Ann Clin Biochem. 1992. PMID: 1626924
Maturation of mitochondrial and other isoenzymes of creatine kinase in skeletal muscle of preterm born infants.
Smeitink J, Ruitenbeek W, van Lith T, Sengers R, Trijbels F, Wevers R, Sperl W, de Graaf R. Smeitink J, et al. Ann Clin Biochem. 1992 May;29 ( Pt 3):302-6. doi: 10.1177/000456329202900309. Ann Clin Biochem. 1992. PMID: 1319128
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. 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.
The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.
Triepels R, Smeitink J, Loeffen J, Smeets R, Buskens C, Trijbels F, van den Heuvel L. Triepels R, et al. J Inherit Metab Dis. 1999 Apr;22(2):163-73. doi: 10.1023/a:1005402020569. J Inherit Metab Dis. 1999. PMID: 10234612
The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.
Loeffen J, Smeets R, Smeitink J, Ruitenbeek W, Janssen A, Mariman E, Sengers R, Trijbels F, van den Heuvel L. Loeffen J, et al. J Inherit Metab Dis. 1998 Jun;21(3):210-5. doi: 10.1023/a:1005339332062. J Inherit Metab Dis. 1998. PMID: 9686359 No abstract available.
291 results
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