Malingré HE - 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: malingre he. 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: malingre he. Am J Hum Genet. 1995 Feb;56(2):381-7. Am J Hum Genet. 1995. PMID: 7847371 Free PMC article.

3

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: malingre he. 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.

4

Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.

Vredendaal PJ, van den Berg IE, Malingré HE, Stroobants AK, Olde Weghuis DE, Berger R. Vredendaal PJ, et al. Among authors: malingre he. Biochem Biophys Res Commun. 1996 Jun 25;223(3):718-23. doi: 10.1006/bbrc.1996.0961. Biochem Biophys Res Commun. 1996. PMID: 8687463

5

Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene.

Vredendaal PJ, van den Berg IE, Stroobants AK, van der A DL, Malingré HE, Berger R. Vredendaal PJ, et al. Among authors: malingre he. Mamm Genome. 1998 Sep;9(9):763-8. doi: 10.1007/s003359900860. Mamm Genome. 1998. PMID: 9716664

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: malingre he. 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

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. Among authors: malingre he. Biochem J. 2007 Oct 1;407(1):49-59. doi: 10.1042/BJ20070705. Biochem J. 2007. PMID: 17617060 Free PMC article.

8

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.

Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE. Clayton PT, et al. Among authors: malingre he. J Clin Invest. 2001 Aug;108(3):457-65. doi: 10.1172/JCI11294. J Clin Invest. 2001. PMID: 11489939 Free PMC article.

9

Isolation and characterization of the rat gene encoding glutamate dehydrogenase.

Das AT, Arnberg AC, Malingré H, Moerer P, Charles R, Moorman AF, Lamers WH. Das AT, et al. Eur J Biochem. 1993 Feb 1;211(3):795-803. doi: 10.1111/j.1432-1033.1993.tb17611.x. Eur J Biochem. 1993. PMID: 8094669 Free article.

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