Ruiter J - Search Results

1

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA. van Karnebeek CDM, et al. Among authors: ruiter j. Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15. Am J Hum Genet. 2019. PMID: 31422819 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. Among authors: ruiter j. 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. Among authors: ruiter j. 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

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. Among authors: ruiter jp. 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.

5

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. Among authors: ruiter jp. Biochim Biophys Acta. 1993 Mar 24;1181(1):63-7. doi: 10.1016/0925-4439(93)90091-e. Biochim Biophys Acta. 1993. PMID: 7681329

6

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. Among authors: ruiter jp. J Inherit Metab Dis. 1994;17(3):304-6. doi: 10.1007/BF00711814. J Inherit Metab Dis. 1994. PMID: 7807938 No abstract available.

7

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

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

8

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. Among authors: ruiter jp. J Inherit Metab Dis. 1996;19(2):133-6. doi: 10.1007/BF01799412. J Inherit Metab Dis. 1996. PMID: 8739948 No abstract available.

9

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. Among authors: ruiter jp. J Inherit Metab Dis. 1996;19(2):161-4. doi: 10.1007/BF01799419. J Inherit Metab Dis. 1996. PMID: 8739955 No abstract available.

10

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C).

Ijlst L, Ruiter JP, Vreijling J, Wanders RJ. Ijlst L, et al. Among authors: ruiter jp. J Inherit Metab Dis. 1996;19(2):165-8. doi: 10.1007/BF01799420. J Inherit Metab Dis. 1996. PMID: 8739956 No abstract available.

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