Search Results - "ONKENHOUT, W"

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias by Molema, F., Jacobs, E. H., Onkenhout, W., Schoonderwoerd, G. C., Langendonk, J. G., Williams, Monique

“…Background There is increasing evidence that long-term complications in organic acidemias are caused by impaired mitochondrial metabolism. Currently, there is…”
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Cystathionine Levels in Patients With Huntington Disease by Aziz, N A, Onkenhout, W, Kerstens, H J, Roos, Raymund A C

“…Recently a profound depletion of cystathionine γ-lyase (CSE), the principal enzyme involved in the generation of cysteine from cystathionine, was shown in…”
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Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene by Rij, Maartje C., Jansen, Fenna A. R., Hellebrekers, Debby M. E. I., Onkenhout, W., Smeets, Hubert J. M., Hendrickx, Alexandra T., Gottschalk, Ralph W. H., Steggerda, Sylke J., Peeters‐Scholte, Cacha M. P. C. D., Haak, Monique C., Hilhorst‐Hofstee, Yvonne

“…Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar…”
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Gut permeability in paediatric cardiac surgery by Malagon, I., Onkenhout, W., Klok, G., van der Poel, P.F.H., Bovill, J.G., Hazekamp, M.G.

“…Intestinal mucosal ischaemia can occur in infants and children during and after cardiac surgery. Severe decreases in mucosal perfusion may cause complications…”
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Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL 4 gene by van Rij, Maartje C., Jansen, Fenna A. R., Hellebrekers, Debby M. E. I., Onkenhout, W., Smeets, Hubert J. M., Hendrickx, Alexandra T., Gottschalk, Ralph W. H., Steggerda, Sylke J., Peeters‐Scholte, Cacha M. P. C. D., Haak, Monique C., Hilhorst‐Hofstee, Yvonne

“…Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL 4 gene mutations may present prenatally with polyhydramnios and cerebellar…”
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Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum by Sala, P. Ruiz, Ruijter, G., Acquaviva, C., Chabli, A., de Sain-van der Velden, M. G. M., Garcia-Villoria, J., Heiner-Fokkema, M. R., Jeannesson-Thivisol, E., Leckstrom, K., Franzson, L., Lynes, G., Olesen, J., Onkenhout, W., Petrou, P., Drousiotou, A., Ribes, A., Vianey-Saban, C., Merinero, B.

“…The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic…”
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GLUT‐1 deficiency without epilepsy—an exceptional case by Overweg‐Plandsoen, W. C. G., Groener, J. E. M., Wang, D., Onkenhout, W., Brouwer, O. F., Bakker, H. D., De Vivo, D. C.

“…The GLUT‐1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood–brain barrier as a result of a defect in the…”
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Persistent 5‐oxoprolinuria with normal glutathione synthase and 5‐oxoprolinase activities by Ruijter, G. J. G., Mourad‐Baars, P. E. C., Ristoff, E., Onkenhout, W., Poorthuis, B. J. H. M.

“…Summary 5‐Oxoprolinuria is primarily associated with inborn errors of the γ‐glutamyl cycle. In addition, transient 5‐oxoprolinuria has been reported to occur…”
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Implication of fibrate therapy for homocysteine by Jonkers, IJAM, de Man, FHAF, Onkenhout, W, van der Laarse, A, Smelt, AHM

“…To identify a possible effect of bezafibrate on renal function, serum creatinine was assessed, 24 h urine was collected for measurement of urinary creatinine,…”
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Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset by Smelt, A H, Poorthuis, B J, Onkenhout, W, Scholte, H R, Andresen, B S, van Duinen, S G, Gregersen, N, Wintzen, A R

“…Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult…”
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l-Arabinosuria: a new defect in human pentose metabolism by Onkenhout, W, Groener, J.E.M, Verhoeven, N.M, Yin, C, Laan, L.A.E.M

“…A female patient, the first child of healthy non-consanguineous parents, presented at the age of 16 months with delayed motor development and facial…”
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Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia by Maaswinkel-Mooij, P.D., Van den Bogert, C., Scholte, H.R., Onkenhout, W., Brederoo, P., Poorthuis, B.J.H.M.

“…An infant with feeding difficulties, hypotonia, lactic acidemia, and severe hypoketotic hypoglycemia died at the age of 7 months of liver disease. Electron…”
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Effect of intraduodenal and intravenous amino acids on proximal gastric motor function in man by MEARADJI, B, MASCLEE, A. A. M, ONKENHOUT, W, BIEMOND, I, LAMERS, C. B. H. W

“…The present study was performed to investigate the effect of amino acids during the intestinal and postabsorptive phase of digestion on proximal gastric motor…”
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Psychological and metabolic responses of carbohydrate craving obese patients to carbohydrate, fat and protein-rich meals by TOORNVLIET, A. C, PIJL, H, TUINENBURG, J. C, ELTE-DE WEVER, B. M, PIETERS, M. S. M, FRÖLICH, M, ONKENHOUT, W, MEINDERS, A. E

“…A defective central serotonergic neurotransmission has been suggested to result in the concomitant occurrence of an appetite disorder and a disturbed mood…”
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Effect of intravenous amino acids on interdigestive antroduodenal motility and small bowel transit time by Gielkens, H A J, van den Biggelaar, A, Vecht, J, Onkenhout, W, Lamers, C B H W, Masclee, A A M

“…Background Patients on total parenteral nutrition have an increased risk of developing gallstones because of gall bladder hypomotility. High dose amino acids…”
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Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β‐oxidation defects by Onkenhout, W., Venizelos, V., Scholte, H. R., Klerk, J. B. C., Poorthuis, B. J. H. M.

“…The fatty acid composition was determined of liver, skeletal muscle and heart obtained post mortem from patients with medium‐chain acyl‐CoA dehydrogenase…”
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Dietary counselling effectively improves lipid levels in patients with endogenous hypertriglyceridemia : emphasis on weight reduction and alcohol limitation by DE MAN, F. H, VAN DER LAARSE, A, HOPMAN, E. G, LEUVEN, J. A. G, ONKENHOUT, W, DALLINGA-THIE, G. M, SMELT, A. H

“…To evaluate the short-term effect of dietary counselling in patients with endogenous hypertriglyceridemia and evaluate the effects of advised nutrient changes…”
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Evidence for brain serotonin-mediated control of carbohydrate consumption in normal weight and obese humans by Pijl, H, Koppeschaar, H P, Cohen, A F, Iestra, J A, Schoemaker, H C, Frölich, M, Onkenhout, W, Meinders, A E

“…A plasma insulin and amino acid-mediated mechanism is thought to modulate brain serotonin concentration, thereby regulating carbohydrate consumption on a meal…”
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Adenylosuccinase deficiency presenting with epilepsy in early infancy by Maaswinkel‐Mooij, P.D., Laan, L. A. E. M., Onkenhout, W., Brouwer, O. F., Jaeken, J., Poorthuis, B. J. H. M.

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Pyridoxine‐responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine:glyoxalate aminotransferase activity by Kist‐van Holthe, J. E., Onkenhout, W., der Heijden, A. J.

“…Primary hyperoxaluria type I (PH I) is an autosomal recessive disorder characterized by excessive oxalate excretion leading to nephrocalcinosis and progressive…”
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