Search Results - "Romeijn, G J" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Mutations in MVK , encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

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
Published in Nature genetics (01.06.1999)

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Journal Article

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

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.
Published in Human molecular genetics (01.08.1999)

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Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

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.
Published in Journal of inherited metabolic disease (01.06.2000)

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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

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.
Published in Journal of inherited metabolic disease (01.06.1998)

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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

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
Published in Journal of medical genetics (01.05.2000)

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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

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, Romeijn, G J
Published in Journal of inherited metabolic disease (1996)

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Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells

Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells

by Wanders, R J, Ofman, R, Romeijn, G J, Schutgens, R B, Mooijer, P A, Dekker, C, van den Bosch, H
Published in Journal of inherited metabolic disease (1995)

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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

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
Published in European journal of human genetics : EJHG (01.04.2001)

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Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome

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
Published in American journal of medical genetics. Part A (15.09.2003)

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Journal Article

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

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
Published in Biochemical and biophysical research communications (29.06.1998)

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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

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.
Published in Journal of inherited metabolic disease (01.07.1997)

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Journal Article Conference Proceeding

Mutations in the 3 beta -Hydroxysterol Delta super(24)-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

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
Published in American journal of human genetics (01.10.2001)

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Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

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
Published in American journal of human genetics (01.10.2001)

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Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis

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
Published in Journal of lipid research (01.01.2002)

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Journal Article

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

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
Published in Journal of inherited metabolic disease (01.07.1997)

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Journal Article

Phytanic acid α-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes

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.
Published in Biochimica et biophysica acta (22.09.1999)

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Journal Article

Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis

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
Published in Advances in experimental medicine and biology (2003)

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Journal Article

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

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
Published in European journal of human genetics : EJHG (01.08.2001)

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Journal Article

Validation of Animal Experiments on Ciliary Function In Vitro. II. The Influence of Absorption Enhancers, Preservatives and Physiologic Saline

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
Published in Acta oto-laryngologica (01.01.1999)

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Journal Article

Validation of Animal Experiments on Ciliary Function In Vitro. I. The Influence of Substances Used Clinically

Validation of Animal Experiments on Ciliary Function In Vitro. I. The Influence of Substances Used Clinically

by BOEK, W. M, ROMEIJN, S. G, GRAAMANS, K, VERHOEF, J. C, MERKUS, F. W. H. M, HUIZING, E. H
Published in Acta oto-laryngologica (1999)

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