Search Results - "Koning, T. J."

Amino acid synthesis deficiencies by de Koning, T. J.

“…In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the…”
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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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l-Serine synthesis in the central nervous system: A review on serine deficiency disorders by Tabatabaie, L., Klomp, L.W., Berger, R., de Koning, T.J.

“…The de novo synthesis of the amino acid l-serine plays an essential role in the development and functioning of the central nervous system (CNS). l-Serine…”
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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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Musculoskeletal manifestations of lysosomal storage disorders by Aldenhoven, M, Sakkers, R J B, Boelens, J, de Koning, T J, Wulffraat, N M

“…Lysosomal storage disorders (LSDs), a heterogeneous group of inborn metabolic disorders, are far more common than most doctors presume. Although patients with…”
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Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C by Koens, L H, Kuiper, A, Coenen, M A, Elting, J W J, de Vries, J J, Engelen, M, Koelman, J H T M, van Spronsen, F J, Spikman, J M, de Koning, T J, Tijssen, M A J

“…Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral…”
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Treatment with amino acids in serine deficiency disorders by Koning, T. J.

“…Summary Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L‐serine. At present two disorders have been reported:…”
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Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome by Steinbusch, CVM, van Roozendaal, KEP, Tserpelis, D, Smeets, EEJ, Kranenburg-de Koning, TJ, de Waal, KH, Zweier, C, Rauch, A, Hennekam, RCM, Blok, MJ, Schrander-Stumpel, CTRM

“…Steinbusch CVM, van Roozendaal KEP, Tserpelis D, Smeets EEJ, Kranenburg‐de Koning TJ, de Waal KH, Zweier C, Rauch A, Hennekam RCM, Blok MJ, Schrander‐Stumpel…”
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Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma by Luykx, J J, Bakker, S C, Visser, W F, Verhoeven-Duif, N, Buizer-Voskamp, J E, den Heijer, J M, Boks, M P M, Sul, J H, Eskin, E, Ori, A P, Cantor, R M, Vorstman, J, Strengman, E, DeYoung, J, Kappen, T H, Pariama, E, van Dongen, E P A, Borgdorff, P, Bruins, P, de Koning, T J, Kahn, R S, Ophoff, R A

“…The N -methyl- d -aspartate receptor (NMDAR) coagonists glycine, d -serine and l -proline play crucial roles in NMDAR-dependent neurotransmission and are…”
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Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency by Tabatabaie, L, Klomp, L. W. J, Rubio-Gozalbo, M. E, Spaapen, L. J. M, Haagen, A. A. M, Dorland, L, de Koning, T. J

“…3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and…”
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Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency by de Koning, TJ, Klomp, LWJ, van Oppen, ACC, Beemer, FA, Dorland, L, van den Berg, IET, Berger, R

“…3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor…”
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Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging by Leijser, L.M, de Vries, L.S, Rutherford, M.A, Manzur, A.Y, Groenendaal, F, de Koning, T.J, van der Heide-Jalving, M, Cowan, F.M

“…Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very…”
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Hydrolysed Formula Is a Risk Factor for Vitamin K Deficiency in Infants With Unrecognised Cholestasis by Hasselt, PM, Vries, W, Vries, E, Kok, K, Cranenburg, ECM, Koning, TJ, Schurgers, LJ, Verkade, HJ, Houwen, RHJ

“…ABSTRACT Objectives: Vitamin K deficiency (VKD) may cause life‐threatening haemorrhages, especially in breast‐fed infants with unrecognised cholestasis…”
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Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics by Tabatabaie, L, de Koning, T.J, Geboers, A.J.J.M, van den Berg, I.E.T, Berger, R, Klomp, L.W.J

“…Three-phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare recessive inborn error in the biosynthesis of the amino acid L-serine characterized…”
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Mutations in MVK , encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome by Waterham, Hans R, Poll-The, Bwee Tien, Houten, Sander M, Kuis, Wietse, Duran, Marinus, de Koning, Tom J, van Royen-Kerkhof, Annet, Romeijn, Gerrit J, Frenkel, Joost, Dorland, Lambertus, de Barse, Martina M.J, Huijbers, Wim A.R, Rijkers, Ger T, Wanders, Ronald J.A

“…Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an autosomal recessive disorder characterized by recurrent episodes of fever…”
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Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance by Benninga, M. A, Lilien, M, de Koning, T. J, Duran, M, Versteegh, F. G. A, Goldschmeding, R, Poll-The, B. T

“…Renal Fanconi syndrome developed rapidly in a 3-year-old Moroccan girl with established lysinuric protein intolerance. She was hospitalized because of lowered…”
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The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria by Hoeksma, M., Van Rijn, M., Verkerk, P. H., Bosch, A. M., Mulder, M. F., Klerk, J. B. C., De Koning, T. J., Rubio‐Gozalbo, E., De Vries, M., Sauer, P. J. J., Spronsen, F. J.

“…Summary In a previous study, Dutch children with phenylketonuria (PKU) were found to be slightly shorter than their healthy counterparts. In the literature, it…”
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COVID outcome prediction in the emergency department (COPE): using retrospective Dutch hospital data to develop simple and valid models for predicting mortality and need for intensive care unit admission in patients who present at the emergency department with suspected COVID-19 by van Klaveren, David, Rekkas, Alexandros, Alsma, Jelmer, Verdonschot, Rob J C G, Koning, Dick T J J, Kamps, Marlijn J A, Dormans, Tom, Stassen, Robert, Weijer, Sebastiaan, Arnold, Klaas-Sierk, Tomlow, Benjamin, de Geus, Hilde R H, van Bruchem-Visser, Rozemarijn L, Miedema, Jelle R, Verbon, Annelies, van Nood, Els, Kent, David M, Schuit, Stephanie C E, Lingsma, Hester

“…ObjectivesDevelop simple and valid models for predicting mortality and need for intensive care unit (ICU) admission in patients who present at the emergency…”
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Congenital microcephaly and seizures due to 3‐phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids by De Koning, T. J., Duran, M., Maldergem, L. Van, Pineda, M., Dorland, L., Gooskens, R., Jaeken, J., Poll‐The, B. T.

“…Congenital microcephaly, intractable seizures and severe psycho‐motor retardation characterize 3‐phosphoglycerate dehydrogenase (3‐PGDH) deficiency, a disorder…”
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Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation by Cleary, M. A., Dorland, L., Koning, T. J., Poll‐The, B. T., Duran, M., Mandell, R., Shih, V. E., Berger, R., Olpin, S. E., Besley, G. T. N.

“…Summary We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the…”
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