Bolhuis PA - Search Results

1

Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease.

Cornelissen JC, Wanders RJ, Bolhuis PA, Bleeker-Wagemakers E, Oostra RJ, Wijburg FA. Cornelissen JC, et al. Among authors: bolhuis pa. J Inherit Metab Dis. 1993;16(3):531-3. doi: 10.1007/BF00711673. J Inherit Metab Dis. 1993. PMID: 7609444 Clinical Trial. No abstract available.

2

NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain.

Wijburg FA, Wanders RJ, van Lie Peters EM, Vos GD, Loggers HG, Bolhuis PA, Herzberg NH, Ruitenbeek W, van Wilsem A, ten Houten R, et al. Wijburg FA, et al. Among authors: bolhuis pa. J Inherit Metab Dis. 1991;14(3):297-300. doi: 10.1007/BF01811686. J Inherit Metab Dis. 1991. PMID: 1770777 No abstract available.

3

[Leber's optic nerve atrophy; a mitochondrial hereditary disease].

Oostra RJ, Bolhuis PA, Wijburg FA, Bleeker-Wagemakers EM. Oostra RJ, et al. Among authors: bolhuis pa. Ned Tijdschr Geneeskd. 1995 Jul 1;139(26):1327-31. Ned Tijdschr Geneeskd. 1995. PMID: 7617050 Dutch.

4

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM. Oostra RJ, et al. Among authors: bolhuis pa. J Med Genet. 1994 Apr;31(4):280-6. doi: 10.1136/jmg.31.4.280. J Med Genet. 1994. PMID: 8071952 Free PMC article.

5

Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation.

Oostra RJ, Bolhuis PA, Zorn-Ende I, de Kok-Nazaruk MM, Bleeker-Wagemakers EM. Oostra RJ, et al. Among authors: bolhuis pa. Hum Genet. 1994 Sep;94(3):265-70. doi: 10.1007/BF00208281. Hum Genet. 1994. PMID: 8076942

6

Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy.

Oostra RJ, Bolhuis PA, Bleeker-Wagemakers EM. Oostra RJ, et al. Among authors: bolhuis pa. Ophthalmic Paediatr Genet. 1993 Sep;14(3):109-15. doi: 10.3109/13816819309087626. Ophthalmic Paediatr Genet. 1993. PMID: 8115117

7

No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.

Oostra RJ, Kemp S, Bolhuis PA, Bleeker-Wagemakers EM. Oostra RJ, et al. Among authors: bolhuis pa. Hum Genet. 1996 Apr;97(4):500-5. doi: 10.1007/BF02267075. Hum Genet. 1996. PMID: 8834251

8

On the many faces of Leber hereditary optic neuropathy.

Oostra RJ, Tijmes NT, Cobben JM, Bolhuis PA, van Nesselrooij BP, Houtman WA, de Kok-Nazaruk MM, Bleeker-Wagemakers EM. Oostra RJ, et al. Among authors: bolhuis pa. Clin Genet. 1997 Jun;51(6):388-93. doi: 10.1111/j.1399-0004.1997.tb02496.x. Clin Genet. 1997. PMID: 9237501

9

The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain.

Oostra RJ, Van Galen MJ, Bolhuis PA, Bleeker-Wagemakers EM, Van den Bogert C. Oostra RJ, et al. Among authors: bolhuis pa. Biochem Biophys Res Commun. 1995 Oct 24;215(3):1001-5. doi: 10.1006/bbrc.1995.2563. Biochem Biophys Res Commun. 1995. PMID: 7488023

10

Muscle cell cultures in Menkes' disease: copper accumulation in myotubes.

van den Berg GJ, Kroon JJ, Wijburg FA, Sinjorgo KM, Herzberg NH, Bolhuis PA. van den Berg GJ, et al. Among authors: bolhuis pa. J Inherit Metab Dis. 1990;13(2):207-11. doi: 10.1007/BF01799687. J Inherit Metab Dis. 1990. PMID: 2166183

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