Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
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)
Published in European journal of human genetics : EJHG (01.04.2001)
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Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis
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)
Published in Journal of lipid research (01.01.2002)
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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
Wanders, Ronald J.A., Romeijn, Gerrit-Jan
Published in Biochemical and biophysical research communications (29.06.1998)
Published in Biochemical and biophysical research communications (29.06.1998)
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Phytanic acid α-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes
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)
Published in Biochimica et biophysica acta (22.09.1999)
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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
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)
Published in European journal of human genetics : EJHG (01.08.2001)
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Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome
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)
Published in American journal of medical genetics. Part A (15.09.2003)
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Mutations in the 3β-Hydroxysterol Δ 24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis
Waterham, Hans R., Koster, Janet, Romeijn, Gerrit Jan, Hennekam, Raoul C.M., Vreken, Peter, Andersson, Hans C., FitzPatrick, David R., Kelley, Richard. I., Wanders, Ronald J.A.
Published in American journal of human genetics (2001)
Published in American journal of human genetics (2001)
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Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis
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)
Published in Advances in experimental medicine and biology (2003)
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Mutations in the 3β-hydroxysterol Δ24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
WATERHAM, Hans R, KOSTER, Janet, ROMEIJN, Gerrit Jan, HENNEKAM, Raoul C. M, VREKEN, Peter, ANDERSSON, Hans C, FITZPATRICK, David R, KELLEY, Richard I, WANDERS, Ronald J. A
Published in American journal of human genetics (01.10.2001)
Published in American journal of human genetics (01.10.2001)
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Erratum: Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
Houten, SanderM, Koster, Janet, Romeijn, Gerrit-Jan, Frenkel, Joost, Di Rocco, Maja, Caruso, Ubaldo, Landrieu, Pierre, Kelley, RichardI, Kuis, Wietse, Poll-The, Bwee Tien, Gibson, K Michael, Wanders, Ronald JA, Waterham, Hans R
Published in European journal of human genetics : EJHG (30.08.2001)
Published in European journal of human genetics : EJHG (30.08.2001)
Get full text
Journal Article