van Beurden EA - Search Results

1

Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).

van den Berg IE, van Beurden EA, de Klerk JB, van Diggelen OP, Malingré HE, Boer MM, Berger R. van den Berg IE, et al. Among authors: van beurden ea. Am J Hum Genet. 1997 Sep;61(3):539-46. doi: 10.1086/515502. Am J Hum Genet. 1997. PMID: 9326319 Free PMC article.

2

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

van den Berg IE, van Beurden EA, Malingré HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R. van den Berg IE, et al. Among authors: van beurden ea. Am J Hum Genet. 1995 Feb;56(2):381-7. Am J Hum Genet. 1995. PMID: 7847371 Free PMC article.

3

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R. Ploos van Amstel JK, et al. Among authors: van beurden ea. Hum Genet. 1996 Jan;97(1):51-9. doi: 10.1007/BF00218833. Hum Genet. 1996. PMID: 8557261

4

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).

van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE. van Beurden EA, et al. Biochem Biophys Res Commun. 1997 Jul 30;236(3):544-8. doi: 10.1006/bbrc.1997.7006. Biochem Biophys Res Commun. 1997. PMID: 9245685

5

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R. Klomp LW, et al. Among authors: van beurden ea. Am J Hum Genet. 2000 Dec;67(6):1389-99. doi: 10.1086/316886. Epub 2000 Oct 27. Am J Hum Genet. 2000. PMID: 11055895 Free PMC article.

6

Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1.

Luijerink MC, van Beurden EA, Malingré HE, Jacobs SM, Grompe M, Klomp LW, Berger R, van den Berg IE. Luijerink MC, et al. Among authors: van beurden ea. Kidney Int. 2004 Sep;66(3):990-1000. doi: 10.1111/j.1523-1755.2004.00788.x. Kidney Int. 2004. PMID: 15327392 Free article.

7

Extensive changes in liver gene expression induced by hereditary tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC).

Luijerink MC, Jacobs SM, van Beurden EA, Koornneef LP, Klomp LW, Berger R, van den Berg IE. Luijerink MC, et al. Among authors: van beurden ea. J Hepatol. 2003 Dec;39(6):901-9. doi: 10.1016/s0168-8278(03)00433-1. J Hepatol. 2003. PMID: 14642604

8

Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake.

van den Berghe PV, Folmer DE, Malingré HE, van Beurden E, Klomp AE, van de Sluis B, Merkx M, Berger R, Klomp LW. van den Berghe PV, et al. Biochem J. 2007 Oct 1;407(1):49-59. doi: 10.1042/BJ20070705. Biochem J. 2007. PMID: 17617060 Free PMC article.

9

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.

van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de Graaf SF, de Groot RE, van Beurden E, Spijker E, Houwen RH, Berger R, Klomp LW. van den Berghe PV, et al. Hepatology. 2009 Dec;50(6):1783-95. doi: 10.1002/hep.23209. Hepatology. 2009. PMID: 19937698

10

Characterization of protein tyrosine kinases from human breast cancer: involvement of the c-src oncogene product.

Ottenhoff-Kalff AE, Rijksen G, van Beurden EA, Hennipman A, Michels AA, Staal GE. Ottenhoff-Kalff AE, et al. Among authors: van beurden ea. Cancer Res. 1992 Sep 1;52(17):4773-8. Cancer Res. 1992. PMID: 1380891

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