Search Results - "Romeijn, G J"

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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Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis by Houten, S. M., Romeijn, G. J., Koster, J., Gray, R. G. F., Darbyshire, P., Smit, G. P. A., de Klerk, J. B. C., Duran, M., Gibson, K. M., Wanders, R. J. A., Waterham, H. R.

“…Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia…”
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Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome by Poll‐The, B. T., Frenkel, J., Houten, S. M., Kuis, W., Duran, M., Koning, T. J., Dorland, L., Barse, M. M. J., Romeijn, G. J., Wanders, R. J. A., Waterham, H. R.

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Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: Mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata by Wanders, R. J. A., Romeijn, G. J.

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Incidence and molecular mechanism of aberrant splicing owing to a G→C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome by WATERHAM, H R, OOSTHEIM, W, ROMEIJN, G J, WANDERS, R J A, HENNEKAM, R C M

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Cholesterol biosynthesis in Zellweger syndrome: Normal activity of mevalonate kinase, mevalonate‐5′‐pyrophosphate decarboxylase and IPP‐isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver by Wanders, R. J. A., Romeijn, G. J.

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Measurement of dihydroxyacetone‐phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells by Wanders, R. J. A., Ofman, R., Romeijn, G. J., Schutgens, R. B. H., Mooijer, P. A. W., Dekker, C., Bosch, H.

“…Summary Dihydroxyacetone‐phosphate acyltransferase (DHAPAT) is a peroxisomal enzyme catalysing the first step in ether‐phospholipid biosynthesis. DHAPAT is…”
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Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome by Houten, S M, Koster, J, Romeijn, G J, Frenkel, J, Di Rocco, M, Caruso, U, Landrieu, P, Kelley, R I, Kuis, W, Poll-The, B T, Gibson, K M, Wanders, R J, Waterham, H R

“…Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a…”
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Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome by Langius, Fernanda A.A., Waterham, Hans R., Romeijn, Gerrit Jan, Oostheim, Wendy, de Barse, Martina M.J., Dorland, Lambertus, Duran, Marinus, Beemer, Frits A., Wanders, Ronald J.A., Poll-The, Bwee Tien

“…Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome characterized by mental retardation, congenital anomalies, and growth…”
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Differential Deficiency of Mevalonate Kinase and Phosphomevalonate Kinase in Patients with Distinct Defects in Peroxisome Biogenesis: Evidence for a Major Role of Peroxisomes in Cholesterol Biosynthesis by Wanders, Ronald J.A., Romeijn, Gerrit-Jan

“…Peroxisomes catalyze a number of essential metabolic functions especially related to lipid metabolism. There is increasing evidence suggesting that peroxisomes…”
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Smith‐Lemli‐Opitz syndrome: Deficient Δ7‐reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre‐ and postnatal detection by Wanders, R. J. A., Romeijn, G. J., Wijburg, F., Hennekam, R. C. M., Jong, J., Wevers, R. A., Dacremont, G.

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Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis by Waterham, H R, Koster, J, Romeijn, G J, Hennekam, R C, Vreken, P, Andersson, H C, FitzPatrick, D R, Kelley, R I, Wanders, R J

“…Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies. Patients with desmosterolosis have elevated levels of…”
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Mutations in the 3 beta -Hydroxysterol Delta super(24)-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis by Waterham, H R, Koster, J, Romeijn, G J, Hennekam, RCM, Vreken, P, Andersson, H C, Patrick, DRF, Kelley, R I, Wanders, RJA

“…Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies. Patients with desmosterolosis have elevated levels of…”
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Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis by Hogenboom, Sietske, Romeijn, Gerrit Jan, Houten, Sander M, Baes, Myriam, Wanders, Ronald J A, Waterham, Hans R

“…To unravel the conflicting data concerning the dependence of human cholesterol biosynthesis on functional peroxisomes, we determined activities and levels of…”
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Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection by Wanders, R J, Romeijn, G J, Wijburg, F, Hennekam, R C, de Jong, J, Wevers, R A, Dacremont, G

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Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells: Diagnosis of human peroxisomal disorders. A handbook by WANDERS, R. J. A, OFMAN, R, ROMEIJN, G. J, SCHUTGENS, R. B. H, MOOIJER, P. A. W, DEKKER, C, VAN DEN BOSCH, H

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Phytanic acid α-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes by Jansen, Gerbert A., Verhoeven, Nanda M., Denis, Simone, Romeijn, Gerrit-Jan, Jakobs, Cornelis, ten Brink, Herman J., Wanders, Ronald J.A.

“…Phytanic acid is broken down by α-oxidation in three steps finally yielding pristanic acid. The first step occurs in peroxisomes and is catalysed by…”
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Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis by Hogenboom, Sietske, Romeijn, Gerrit Jan, Houten, Sander M, Baes, Myriam, Wanders, Ronald J A, Waterham, Hans R

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Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome by Houten, Sander M, Koster, Janet, Gerrit-Jan Romeijn, Frenkel, Joost, Maja Di Rocco, Caruso, Ubaldo, Landrieu, Pierre, Kelley, Richard I, Kuis, Wietse, Bwee Tien Poll-The, Gibson, K Michael, Wanders, Ronald J A, Waterham, Hans R

“…Correction to: European Journal of Human Genetics (2001) 9, 253-259…”
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Validation of Animal Experiments on Ciliary Function In Vitro. II. The Influence of Absorption Enhancers, Preservatives and Physiologic Saline by BOEK, W. M, ROMEIJN, S. G, GRAAMANS, K, VERHOEF, J. C, MERKUS, F. W. H. M, HUIZING, E. H

“…Ciliary beat frequency (CBF) is one of the most important parameters of mucociliary clearance. Previously, we demonstrated that mucosa from chicken embryo…”
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