Search Results - "WATERHAM, H. R."

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders by Wanders, RJA, Waterham, HR

“…The peroxisomal disorders represent a group of genetic diseases in humans in which there is an impairment in one or more peroxisomal functions. The peroxisomal…”
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The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy) by El Hajj, H. I, Vluggens, A, Andreoletti, P, Ragot, K, Mandard, S, Kersten, S, Waterham, H. R, Lizard, G, Wanders, R. J. A, Reddy, J. K, Cherkaoui-Malki, Mustapha

“…Among several peroxisomal neurodegenerative disorders, the pseudoneonatal adrenoleukodystrophy (P-NALD) is characterized by the acyl-coenzyme A oxidase 1…”
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Clinical variability of isovaleric acidemia in a genetically homogeneous population by Dercksen, M., Duran, M., IJlst, L., Mienie, L. J., Reinecke, C. J., Ruiter, J. P. N., Waterham, H. R., Wanders, R. J. A.

“…Isovaleric acidemia (IVA) is one of the most common organic acidemias found in South Africa. Since 1983, a significant number of IVA cases have been identified…”
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MRI as diagnostic tool in early-onset peroxisomal disorders by VAN DER KNAAP, M. S, WASSMER, E, WOLF, N. I, FERREIRA, P, TOPCU, M, WANDERS, R. J. A, WATERHAM, H. R, FERDINANDUSSE, S

“…Peroxisomal blood tests are generally considered to be conclusive. We observed several patients with a clinical and MRI phenotype suggestive of an infantile…”
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Fatty acid metabolism in Saccharomyces cerevisiae by van Roermund, C W T, Waterham, H R, Ijlst, L, Wanders, R J A

“…Peroxisomes are essential subcellular organelles involved in a variety of metabolic processes. Their importance is underlined by the identification of a large…”
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Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency by Henneman, L, Schneiders, M. S, Turkenburg, M, Waterham, H. R

“…Mevalonate kinase deficiency (MKD) is an autoinflammatory disorder caused by mutations in the MVK gene resulting in decreased activity of the enzyme mevalonate…”
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RELAPSING RHABDOMYOLYSIS DUE TO PEROXISOMAL α-METHYLACYL-COA RACEMASE DEFICIENCY by KAPINA, V, SEDEL, F, TRUFFERT, A, HORVATH, J, WANDERS, R. J. A, WATERHAM, H. R, PICARD, F

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Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation by Houten, S M, Frenkel, J, Waterham, H R

“…Mevalonate kinase (MK) is an essential enzyme in the isoprenoid biosynthesis pathway which produces numerous biomolecules (isoprenoids) involved in a variety…”
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Inherited disorders of cholesterol biosynthesis by Waterham, HR

“…For many decades, cholesterol has been considered an important structural component of cellular membranes and myelin, and a precursor of steroid hormones and…”
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Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency by Derks, T. G. J., Boer, T. S., van Assen, A., Bos, T., Ruiter, J., Waterham, H. R., Niezen-Koning, K. E., Wanders, R. J. A., Rondeel, J. M. M., Loeber, J. G., ten Kate, L. P., Smit, G. P. A., Reijngoud, D.-J.

“…Summary The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass…”
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A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy by Hamel, Ben C. J., Willemsen, M. A. A. P., Mbwasi, R. M., Mc Larty, R., Sadiq, A. M., Dekker, Marieke C. J., Waterham, H. R.

“…Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been…”
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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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Subcellular localization and physiological role of alpha-methylacyl-CoA racemase by Ferdinandusse, S, Denis, S, IJlst, L, Dacremont, G, Waterham, H R, Wanders, R J

“…alpha-Methylacyl-CoA racemase plays an important role in the beta-oxidation of branched-chain fatty acids and fatty acid derivatives because it catalyzes the…”
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Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy by Wanders, Ronald J.A, Ferdinandusse, Sacha, Denis, Simone, Clayton, Peter T, Graham, Andrew, Rees, John E, Allen, John T, McLean, Brendan N, Brown, Ann Y, Vreken, Peter, Waterham, Hans R

“…Sensory motor neuropathy is associated with various inherited disorders including Charcot-Marie-Tooth disease, X-linked…”
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Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D by Frenkel, J., Houten, S. M., Waterham, H. R., Wanders, R. J. A., Rijkers, G. T., Duran, M., Kuijpers, T. W., van Luijk, W., Poll‐The, B. T., Kuis, W.

“…Objectives. The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was found recently to be caused by a deficiency of mevalonate kinase (MK). The…”
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Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene by Waterham, Hans R., Wijburg, Frits A., Hennekam, Raoul C.M., Vreken, Peter, Poll-The, Bwee Tien, Dorland, Lambertus, Duran, Marinus, Jira, Petr E., Smeitink, Jan A.M., Wevers, Ron A., Wanders, Ronald J.A.

“…Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive developmental disorder characterized by facial dysmorphisms, mental retardation, and…”
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High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal‐maternal disease by Oey, N. A., Den Boer, M. E. J., Ruiter, J. P. N., Wanders, R. J. A., Duran, M., Waterham, H. R., Boer, K., der Post, J. A. M., Wijburg, F. A.

“…As the human fetus and placenta are considered to be primarily dependent on glucose oxidation for energy metabolism, the cause of the remarkable association…”
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Smith‐Lemli‐Opitz Syndrome and the DHCR7 Gene by Jira, P. E., Waterham, H. R., Wanders, R. J. A., Smeitink, J. A. M., Sengers, R. C. A., Wevers, R. A.

“…Summary Smith‐Lemli‐Opitz syndrome, a severe developmental disorder associated with multiple congenital anomalies, is caused by a defect of cholesterol…”
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Identification of human PMP34 as a peroxisomal ATP transporter by Visser, W.F, van Roermund, C.W.T, Waterham, H.R, Wanders, R.J.A

“…In recent years much has been learned about the essential role of peroxisomes in cellular metabolism. Much less, however, is known about the permeability…”
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High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood by van Maldegem, B T, Kloosterman, S F, Janssen, W J, Augustijn, P B, van der Lee, J H, Ijlst, L, Waterham, H R, Duran, R, Wanders, R J A, Wijburg, F A

“…Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of metabolism, most frequently associated with developmental delay…”
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