Search Results - "Klomp, L"

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes by de Bie, P, Muller, P, Wijmenga, C, Klomp, L W J

“…The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of…”
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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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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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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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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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Expression of the Ceruloplasmin Gene in the Human Retina and Brain: Implications for a Pathogenic Model in Aceruloplasminemia by Klomp, Leo W. J., Gitlin, Jonathan D.

“…Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by progressive neurodegeneration of the retina and basal ganglia in…”
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Gibrat's Law: Are the Services Different? by AUDRETSCH, D.B., KLOMP, L., SANTARELLI, E., THURIK, A.R.

“…Several noted surveys on intra-industry dynamics have reached the conclusion from a large body of evidence that Gibrat's Law does not hold. However, almost all…”
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Genetics of familial intrahepatic cholestasis syndromes by van Mil, S W C, Houwen, R H J, Klomp, L W J

“…Bile acids and bile salts have essential functions in the liver and in the small intestine. Their synthesis in the liver provides a metabolic pathway for the…”
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Farnesoid X receptor activation inhibits inflammation and preserves the intestinal barrier in inflammatory bowel disease by Gadaleta, Raffaella M, van Erpecum, Karel J, Oldenburg, Bas, Willemsen, Ellen C L, Renooij, Willem, Murzilli, Stefania, Klomp, Leo W J, Siersema, Peter D, Schipper, Marguerite E I, Danese, Silvio, Penna, Giuseppe, Laverny, Gilles, Adorini, Luciano, Moschetta, Antonio, van Mil, Saskia W C

“…Inflammatory bowel disease (IBD) is characterised by chronic intestinal inflammation, resulting from dysregulation of the mucosal immune system and compromised…”
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Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis by Harris, ZL, Klomp, LW, Gitlin, JD

“…Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration of the retina and basal ganglia associated with specific…”
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Many Faces of the Copper Metabolism Protein MURR1/COMMD1 by Bie, P. de, Sluis, B. van de, Klomp, L, Wijmenga, C

“…Copper is an essential transition metal but is toxic in excess; therefore, its metabolism needs to be tightly regulated. Defects in the regulation of copper…”
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FIC1 disease: a spectrum of intrahepatic cholestatic disorders by van Mil, S W, Klomp, L W, Bull, L N, Houwen, R H

“…FIC1 disease collectively refers to a group of autosomal-recessive familial liver disorders characterized by intrahepatic cholestasis due to mutations in the…”
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The copper connection by Linn, F. H. H., Van Erpecum, K. J., Klomp, L. W. J., Houwen, R. H. J.

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Cloning and analysis of human gastric mucin cDNA reveals two types of conserved cysteine-rich domains by Klomp, L W, Van Rens, L, Strous, G J

“…Human gastric mucin was isolated by successive CsCl-gradient ultracentrifugation in the presence of guanidinium hydrochloride to prevent degradation of the…”
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Productivity convergence in OECD manufacturing industries by Carree, M.A., Klomp, L., Thurik, A.R.

“…The extent of β- and σ-convergence of average labor productivity across manufacturing industries in 18 OECD countries over the period 1972–1992 shows large…”
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Fine-resolution mapping by haplotype evaluation : the examples of PFIC1 and BRIC by BULL, L. N, JUIJN, J. A, ABUKAWA, D, BARTON, D. E, BASS, N. M, BOURKE, B, DRUMM, B, JANKOWSKA, I, LOVISETTO, P, MCQUAID, S, PAWLOWSKA, J, TAZAWA, Y, LIAO, M, VILLA, E, TYGSTRUP, N, BERGER, R, KNISELY, A. S, HOUWEN, R. H. J, FREIMER, N. B, VAN EIJK, M. J. T, SINKE, R. J, STRICKER, N. L, DEYOUNG, J. A, CARLTON, V. E. H, BAHARLOO, S, KLOMP, L. W. J

“…Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), have…”
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Identification of a human gastric mucin precursor: N-linked glycosylation and oligomerization by Klomp, L W, van Rens, L, Strous, G J

“…Gastric mucin plays an important role in the protection of the stomach wall from chemical, microbiological and mechanical damage. We have previously isolated…”
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Association between quality management and performance indicators in Dutch diabetes care groups: a cross-sectional study by Campmans-Kuijpers, Marjo J E, Baan, Caroline A, Lemmens, Lidwien C, Klomp, Maarten L H, Romeijnders, Arnold C M, Rutten, Guy E H M

“…ObjectivesTo enhance the quality of diabetes care in the Netherlands, so-called care groups with three to 250 general practitioners emerged to organise and…”
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Structure, Expression, and Chromosomal Localization of the Mouse Atox1 Gene by Hamza, Iqbal, Klomp, Leo W.J., Gaedigk, Roger, White, Robert A., Gitlin, Jonathan D.

“…Copper trafficking in eukaryotes involves small proteins termed metallochaperones, which mediate copper delivery to specific intracellular sites. Previous…”
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Biosynthesis of a human gall-bladder mucin by Klomp, L W, de Lely, A J, Strous, G J

“…Mucin glycoproteins play an important role in the initial stages of gall-stone formation by a currently largely unknown mechanism. Understanding the structure…”
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