Search Results - "Verhoeven, N. M."

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach by Haijes, H A, Jans, J J M, van der Ham, M, van Hasselt, P M, Verhoeven-Duif, N M

“…Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is…”
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An update on serine deficiency disorders by van der Crabben, S. N., Verhoeven-Duif, N. M., Brilstra, E. H., Van Maldergem, L., Coskun, T., Rubio-Gozalbo, E., Berger, R., de Koning, T. J.

“…Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders…”
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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency by SCHULZE, A, HOFFMANN, G. F, BACHERT, P, KIRSCH, S, SALOMONS, G. S, VERHOEVEN, N. M, MAYATEPEK, E

“…Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased…”
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GAMT deficiency : Features, treatment, and outcome in an inborn error of creatine synthesis by MERCIMEK-MAHMUTOGLU, S, STOECKLER-IPSIROGLU, S, ITEM, C. B, LEUZZI, V, MARQUARDT, I, MÜHL, A, SAELKE-KELLERMANN, R. A, SALOMONS, G. S, SCHULZE, A, SURTEES, R, VAN DER KNAAP, M. S, VASCONCELOS, R, ADAMI, A, VERHOEVEN, N. M, VILARINHO, L, WILICHOWSKI, E, JAKOBS, C, APPLETON, R, CALDEIRA ARAUJO, H, DURAN, M, ENSENAUER, R, FERNANDEZ-ALVAREZ, E, GARCIA, P, GROLIK, C

“…Guanidinoactetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and…”
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X‐linked creatine transporter defect: An overview by Salomons, G. S., Van Dooren, S. J. M., Verhoeven, N. M., Marsden, D., Schwartz, C., Cecil, K. M., DeGrauw, T. J., Jakobs, C.

“…In 2001 we identified a new inborn error of metabolism caused by a defect in the X‐linked creatine transporter SLC6A8 gene mapped at Xq28 (SLC6A8 deficiency,…”
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Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry by Prinsen, Hubertus C. M. T., Schiebergen-Bronkhorst, B. G. M., Roeleveld, M. W., Jans, J. J. M., de Sain-van der Velden, M. G. M., Visser, G., van Hasselt, P. M., Verhoeven-Duif, N. M.

“…Background Amino acidopathies are a class of inborn errors of metabolism (IEM) that can be diagnosed by analysis of amino acids (AA) in plasma. Current…”
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Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase : Relevance to d-2-hydroxyglutaric and γ-hydroxybutyric acidurias by STRUYS, E. A, VERHOEVEN, N. M, TEN BRINK, H. J, WICKENHAGEN, W. V, GIBSON, K. M, JAKOBS, C

“…We investigated the presence of hydroxyacid-oxoacid transhydrogenase (HOT), which catalyses the cofactor-independent conversion of gamma-hydroxybutyrate (GHB)…”
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Reduced brain choline in homocystinuria due to remethylation defects by DEBRAY, F.-G, BOULANGER, Y, BLOM, H. J, JAKOBS, C, LEVY, E, MITCHELL, G. A, LAMBERT, M, KHIAT, A, DECARIE, J.-C, ORQUIN, J, ROY, M.-S, LORTIE, A, RAMOS, F, VERHOEVEN, N. M, STRUYS, E

“…To investigate whether secondary impairment of the transmethylation pathway is a mechanism underlying the neurologic involvement in homocystinuria due to…”
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Inhibition of the pentose phosphate pathway decreases ischemia: reperfusion-induced creatine kinase release in the heart by ZUURBIER, C. J, EERBEEK, O, GOEDHART, P. T, STRUYS, E. A, VERHOEVEN, N. M, JAKOBS, C, INCE, C

“…The oxidative pentose phosphate pathway (oxPPP) produces NADPH, which can be used to maintain glutathione in its reduced state (anti-oxidant; beneficial…”
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Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine by Wamelink, M. M, Smith, D. E, Jansen, E. E, Verhoeven, N. M, Struys, E. A, Jakobs, C

“…Transaldolase deficiency, a recently discovered disorder of carbohydrate metabolism with multisystem involvement, has been diagnosed in 6 patients. Affected…”
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Analysis of polyols in urine by liquid chromatography–tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism by Wamelink, M. M. C., Smith, D. E. C., Jakobs, C., Verhoeven, N. M.

“…Summary Several inborn errors of metabolism with abnormal polyol concentrations in body fluids are known to date. Most of these defects can be diagnosed by the…”
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Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry by van der Ham, M., Albersen, M., de Koning, T.J., Visser, G., Middendorp, A., Bosma, M., Verhoeven-Duif, N.M., de Sain-van der Velden, M.G.M.

“…[Display omitted] ► We present a sensitive UPLC–MS/MS method for quantification of B6 vitamers in human CSF. ► Our method is very accurate since stable isotope…”
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The metabolism of phytanic acid and pristanic acid in man: A review by Verhoeven, N. M., Wanders, R. J. A., Poll‐The, B. T., Saudubray, J.‐M., Jakobs, C.

“…The branched‐chain fatty acid phytanic acid is a constituent of the diet, present in diary products, meat and fish. Degradation of this fatty acid in the human…”
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Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria by Read, M.‐H., Bonamy, C., Laloum, D., Belloy, F., Constans, J. M., Guillois, B., Kottler, M.‐L., Verhoeven, N. M., Jakobs, C.

“…Summary We report the fourth case of combined d‐and L‐2‐hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts…”
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Leukoencephalopathy associated with a disturbance in the metabolism of polyols by Van Der Knaap, M. S., Wevers, R. A., Struys, E. A., Verhoeven, N. M., Pouwels, P. J. W., Engelke, U. F. H., Feikema, W., Valk, J., Jakobs, C.

“…In vivo proton magnetic resonance spectroscopy of the brain demonstrated highly elevated levels of arabitol and ribitol in a 14‐year‐old boy with a white…”
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Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation by Araújo, H. Caldeira, Smit, W., Verhoeven, N.M., Salomons, G.S., Silva, S., Vasconcelos, R., Tomás, H., Almeida, I. Tavares de, Jakobs, C., Duran, M.

“…Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of…”
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A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency by Verhoeven, N. M., Wallot, M., Huck, J. H. J., Dirsch, O., Ballauf, A., Neudorf, U., Salomons, G. S., der Knaap, M. S., Voit, T., Jakobs, C.

“…Summary This paper describes the second patient found to be affected with a deficiency of transaldolase (TALDO1; EC 2.2.1.2). Clinically, this patient…”
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An accurate stable isotope dilution gas chromatographic–mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency by Struys, E.A., Jansen, E.E.W., ten Brink, H.J., Verhoeven, N.M., van der Knaap, M.S., Jakobs, C.

“…A gas chromatography–mass spectrometry (GC–MS) method is described for the quantification of guanidinoacetate in different body fluids, using a two step…”
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Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS) by Gan-Schreier, H., Okun, J. G., Kohlmueller, D., Langhans, C.-D., Peters, V., ten Brink, H. J., Verhoeven, N. M., Jakobs, C., Voelkl, A., Hoffmann, G. F.

“…The novel and rapid assay presented here combines high‐performance liquid chromatography and electrospray ionisation tandem mass spectrometry (HPLC‐ESI‐MS/MS)…”
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Clinical approach to inherited peroxisomal disorders: a series of 27 patients by Baumgartner, M R, Poll-The, B T, Verhoeven, N M, Jakobs, C, Espeel, M, Roels, F, Rabier, D, Levade, T, Rolland, M O, Martinez, M, Wanders, R J, Saudubray, J M

“…To illustrate the clinical and biochemical heterogeneity of peroxisomal disorders, we report our experience with 27 patients seen personally between 1982 and…”
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