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

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An update on serine deficiency disorders von 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.

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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency von SCHULZE, A, HOFFMANN, G. F, BACHERT, P, KIRSCH, S, SALOMONS, G. S, VERHOEVEN, N. M, MAYATEPEK, E

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Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry von 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.

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GAMT deficiency : Features, treatment, and outcome in an inborn error of creatine synthesis von 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

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X‐linked creatine transporter defect: An overview von Salomons, G. S., Van Dooren, S. J. M., Verhoeven, N. M., Marsden, D., Schwartz, C., Cecil, K. M., DeGrauw, T. J., Jakobs, C.

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Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry von 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.

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Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase : Relevance to d-2-hydroxyglutaric and γ-hydroxybutyric acidurias von STRUYS, E. A, VERHOEVEN, N. M, TEN BRINK, H. J, WICKENHAGEN, W. V, GIBSON, K. M, JAKOBS, C

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Reduced brain choline in homocystinuria due to remethylation defects von 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

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Inhibition of the pentose phosphate pathway decreases ischemia: reperfusion-induced creatine kinase release in the heart von ZUURBIER, C. J, EERBEEK, O, GOEDHART, P. T, STRUYS, E. A, VERHOEVEN, N. M, JAKOBS, C, INCE, C

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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 von Wamelink, M. M. C., Smith, D. E. C., Jakobs, C., Verhoeven, N. M.

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Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine von Wamelink, M. M, Smith, D. E, Jansen, E. E, Verhoeven, N. M, Struys, E. A, Jakobs, C

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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 aciduri... von Read, M.‐H., Bonamy, C., Laloum, D., Belloy, F., Constans, J. M., Guillois, B., Kottler, M.‐L., Verhoeven, N. M., Jakobs, C.

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The metabolism of phytanic acid and pristanic acid in man: A review von Verhoeven, N. M., Wanders, R. J. A., Poll‐The, B. T., Saudubray, J.‐M., Jakobs, C.

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Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia von de Sain-van der Velden, M. G. M., van der Ham, M., Verhoeven-Duif, N. M., Visser, G., van Hasselt, P. M.

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Leukoencephalopathy associated with a disturbance in the metabolism of polyols von 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.

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Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation von 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.

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High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome von Molema, F., Haijes, H.A., Janssen, M.C., Bosch, A.M., van Spronsen, F.J., Mulder, M.F., Verhoeven-Duif, N.M., Jans, J.J.M., van der Ploeg, A.T., Wagenmakers, M.A., Rubio-Gozalbo, M.E., Brouwers, M.C.G.J., de Vries, M.C., Fuchs, S., Langendonk, J.G., Rizopoulos, D., van Hasselt, P.M., Williams, M.

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An accurate stable isotope dilution gas chromatographic–mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency von Struys, E.A., Jansen, E.E.W., ten Brink, H.J., Verhoeven, N.M., van der Knaap, M.S., Jakobs, C.

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Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria von Struys, Eduard A., Salomons, Gajja S., Achouri, Younes, Van Schaftingen, Emile, Grosso, Salvatore, Craigen, William J., Verhoeven, Nanda M., Jakobs, Cornelis

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