Ruiter JPN - Search Results

1

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F. van Dijk T, et al. Among authors: ruiter jpn. Eur J Hum Genet. 2018 Dec;26(12):1752-1758. doi: 10.1038/s41431-018-0233-0. Epub 2018 Aug 8. Eur J Hum Genet. 2018. PMID: 30089828 Free PMC article.

2

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.

Wanders RJ, Wijburg FA, Ruiter J, Trijbels JM, Ruitenbeek W, Sengers RC, Bakkeren JA, Feller N. Wanders RJ, et al. J Inherit Metab Dis. 1992;15(1):84-91. doi: 10.1007/BF01800349. J Inherit Metab Dis. 1992. PMID: 1316525

3

Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method.

Wanders RJ, Ruiter J, van Roermund CW, Schutgens RB, Ofman R, Jurriaans S, Tager JM. Wanders RJ, et al. Clin Chim Acta. 1990 Aug 15;189(2):139-44. doi: 10.1016/0009-8981(90)90084-6. Clin Chim Acta. 1990. PMID: 2397596

4

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.

Ijlst L, Uskikubo S, Kamijo T, Hashimoto T, Ruiter JP, de Klerk JB, Wanders RJ. Ijlst L, et al. J Inherit Metab Dis. 1995;18(2):241-4. doi: 10.1007/BF00711778. J Inherit Metab Dis. 1995. PMID: 7564258 No abstract available.

5

Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid beta-oxidation disorders.

Ventura FV, Ruiter JP, Ijlst L, Almeida IT, Wanders RJ. Ventura FV, et al. Biochim Biophys Acta. 1995 Aug 15;1272(1):14-20. doi: 10.1016/0925-4439(95)00064-b. Biochim Biophys Acta. 1995. PMID: 7662716 Free article.

6

Differentiation and proliferation of respiration-deficient human myoblasts.

Herzberg NH, Zwart R, Wolterman RA, Ruiter JP, Wanders RJ, Bolhuis PA, van den Bogert C. Herzberg NH, et al. Biochim Biophys Acta. 1993 Mar 24;1181(1):63-7. doi: 10.1016/0925-4439(93)90091-e. Biochim Biophys Acta. 1993. PMID: 7681329

7

Mitochondrial oxidative phosphorylation in digitonin-permeabilized chorionic villus fibroblasts: a new method with potential for prenatal diagnosis.

Wanders RJ, Ruiter JP, Wijburg FA. Wanders RJ, et al. J Inherit Metab Dis. 1994;17(3):304-6. doi: 10.1007/BF00711814. J Inherit Metab Dis. 1994. PMID: 7807938 No abstract available.

8

Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies.

Wanders RJ, Ruiter JP, Wijburg FA. Wanders RJ, et al. Biochim Biophys Acta. 1993 Jun 19;1181(3):219-22. doi: 10.1016/0925-4439(93)90024-u. Biochim Biophys Acta. 1993. PMID: 8318549

9

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells.

Wanders RJ, Ruiter JP, Wijburg FA, Zeman J, Klement P, Houstek J. Wanders RJ, et al. J Inherit Metab Dis. 1996;19(2):133-6. doi: 10.1007/BF01799412. J Inherit Metab Dis. 1996. PMID: 8739948 No abstract available.

10

Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid beta-oxidation intermediates on mitochondrial oxidative phosphorylation.

Ventura FV, Ruiter JP, Ijlst L, de Almeida IT, Wanders RJ. Ventura FV, et al. J Inherit Metab Dis. 1996;19(2):161-4. doi: 10.1007/BF01799419. J Inherit Metab Dis. 1996. PMID: 8739955 No abstract available.

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