Smeitink JA - Search Results

1

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

Coenen MJ, van den Heuvel LP, Ugalde C, Ten Brinke M, Nijtmans LG, Trijbels FJ, Beblo S, Maier EM, Muntau AC, Smeitink JA. Coenen MJ, et al. Among authors: smeitink ja. Ann Neurol. 2004 Oct;56(4):560-4. doi: 10.1002/ana.20229. Ann Neurol. 2004. PMID: 15455402

2

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

3

Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia.

Smeitink J, Stadhouders A, Sengers R, Ruitenbeek W, Wevers R, ter Laak H, Trijbels F. Smeitink J, et al. Neuromuscul Disord. 1992;2(1):35-40. doi: 10.1016/0960-8966(92)90024-z. Neuromuscul Disord. 1992. PMID: 1525556

4

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

5

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

6

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.

7

Altered folate and vitamin B12 metabolism in families with spina bifida offspring.

van der Put NM, Thomas CM, Eskes TK, Trijbels FJ, Steegers-Theunissen RP, Mariman EC, De Graaf-Hess A, Smeitink JA, Blom HJ. van der Put NM, et al. Among authors: smeitink ja. QJM. 1997 Aug;90(8):505-10. doi: 10.1093/qjmed/90.8.505. QJM. 1997. PMID: 9327028 Free article.

8

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R, Palmieri F. Huizing M, et al. Am J Hum Genet. 1997 Dec;61(6):1239-45. doi: 10.1086/301628. Am J Hum Genet. 1997. PMID: 9399886 Free PMC article.

9

Rapid and reliable measurement of highly elevated blood ammonia concentrations in children.

de Keijzer MH, Jakobs BS, Brandts RW, Hofs MT, Trijbels FJ, Smeitink JA. de Keijzer MH, et al. Among authors: smeitink ja. Eur J Clin Chem Clin Biochem. 1997 Nov;35(11):853-4. doi: 10.1515/cclm.1997.35.11.853. Eur J Clin Chem Clin Biochem. 1997. PMID: 9426343

10

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J. van den Heuvel L, et al. Am J Hum Genet. 1998 Feb;62(2):262-8. doi: 10.1086/301716. Am J Hum Genet. 1998. PMID: 9463323 Free PMC article.

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