ter Laak H - Search Results

1

Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.

Bentlage H, de Coo R, ter Laak H, Sengers R, Trijbels F, Ruitenbeek W, Schlote W, Pfeiffer K, Gencic S, von Jagow G, et al. Bentlage H, et al. Among authors: ter laak h. Eur J Biochem. 1995 Feb 1;227(3):909-15. doi: 10.1111/j.1432-1033.1995.tb20218.x. Eur J Biochem. 1995. PMID: 7867654 Free article.

2

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J. Morava E, et al. Among authors: ter laak h. Eur J Pediatr. 2004 Aug;163(8):467-71. doi: 10.1007/s00431-004-1465-2. Epub 2004 May 27. Eur J Pediatr. 2004. PMID: 15168109

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. Among authors: ter laak h. Neuromuscul Disord. 1992;2(1):35-40. doi: 10.1016/0960-8966(92)90024-z. Neuromuscul Disord. 1992. PMID: 1525556

4

Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy.

Huizing M, Ruitenbeek W, Thinnes FP, DePinto V, Wendel U, Trijbels FJ, Smit LM, ter Laak HJ, van den Heuvel LP. Huizing M, et al. Among authors: ter laak hj. Pediatr Res. 1996 May;39(5):760-5. doi: 10.1203/00006450-199605000-00003. Pediatr Res. 1996. PMID: 8726225 Free article.

5

Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV.

Rubio-Gozalbo ME, Ruitenbeek W, Bentlage HA, Schägger H, Sengers RC, Trijbels JM, ter Laak HJ, Mariman EC, Bakker MM, de Jager J, Smeitink JA. Rubio-Gozalbo ME, et al. Among authors: ter laak hj. Eur J Pediatr. 1997 Dec;156(12):931-4. doi: 10.1007/s004310050745. Eur J Pediatr. 1997. PMID: 9453375

6

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Janssen AJ, et al. Among authors: ter laak h. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232

7

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.

van Domburg PH, Gabreëls-Festen AA, Gabreëls FJ, de Coo R, Ruitenbeek W, Wesseling P, ter Laak H. van Domburg PH, et al. Among authors: ter laak h. Brain. 1996 Jun;119 ( Pt 3):997-1010. doi: 10.1093/brain/119.3.997. Brain. 1996. PMID: 8673507 Free article.

8

MELAS syndrome. Report of two patients, and comparison with data of 24 patients derived from the literature.

van Hellenberg Hubar JL, Gabreëls FJ, Ruitenbeek W, Sengers RC, Renier WO, Thijssen HO, ter Laak HJ. van Hellenberg Hubar JL, et al. Among authors: ter laak hj. Neuropediatrics. 1991 Feb;22(1):10-4. doi: 10.1055/s-2008-1071408. Neuropediatrics. 1991. PMID: 1903852 Review.

9

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle.

Bentlage HA, Wendel U, Schägger H, ter Laak HJ, Janssen AJ, Trijbels JM. Bentlage HA, et al. Among authors: ter laak hj. Neurology. 1996 Jul;47(1):243-8. doi: 10.1212/wnl.47.1.243. Neurology. 1996. PMID: 8710086 Free article.

10

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency.

Rubio-Gozalbo ME, Smeitink JA, Ruitenbeek W, Ter Laak H, Mullaart RA, Schuelke M, Mariman EC, Sengers RC, Gabreëls FJ. Rubio-Gozalbo ME, et al. Among authors: ter laak h. Neurology. 1999 Jan 15;52(2):383-6. doi: 10.1212/wnl.52.2.383. Neurology. 1999. PMID: 9932961

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