Berger R - Search Results

1

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: berger r. 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.

2

L-serine in disease and development.

de Koning TJ, Snell K, Duran M, Berger R, Poll-The BT, Surtees R. de Koning TJ, et al. Among authors: berger r. Biochem J. 2003 May 1;371(Pt 3):653-61. doi: 10.1042/BJ20021785. Biochem J. 2003. PMID: 12534373 Free PMC article. Review.

3

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: berger r. Am J Hum Genet. 1995 Feb;56(2):381-7. Am J Hum Genet. 1995. PMID: 7847371 Free PMC article.

4

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: berger r. Hum Genet. 1996 Jan;97(1):51-9. doi: 10.1007/BF00218833. Hum Genet. 1996. PMID: 8557261

5

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: berger r. Am J Hum Genet. 1997 Sep;61(3):539-46. doi: 10.1086/515502. Am J Hum Genet. 1997. PMID: 9326319 Free PMC article.

6

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R. Bergman AJ, et al. Among authors: berger r. Hum Mutat. 1998;12(1):19-26. doi: 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3. Hum Mutat. 1998. PMID: 9633815

7

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.

de Koning TJ, Duran M, Dorland L, Gooskens R, Van Schaftingen E, Jaeken J, Blau N, Berger R, Poll-The BT. de Koning TJ, et al. Among authors: berger r. Ann Neurol. 1998 Aug;44(2):261-5. doi: 10.1002/ana.410440219. Ann Neurol. 1998. PMID: 9708551

8

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency.

de Koning TJ, Klomp LW, van Oppen AC, Beemer FA, Dorland L, van den Berg I, Berger R. de Koning TJ, et al. Among authors: berger r. Lancet. 2004 Dec 18-31;364(9452):2221-2. doi: 10.1016/S0140-6736(04)17596-X. Lancet. 2004. PMID: 15610810

9

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW. Tabatabaie L, et al. Among authors: berger r. Hum Mutat. 2009 May;30(5):749-56. doi: 10.1002/humu.20934. Hum Mutat. 2009. PMID: 19235232

10

L-serine synthesis in the central nervous system: a review on serine deficiency disorders.

Tabatabaie L, Klomp LW, Berger R, de Koning TJ. Tabatabaie L, et al. Among authors: berger r. Mol Genet Metab. 2010 Mar;99(3):256-62. doi: 10.1016/j.ymgme.2009.10.012. Epub 2009 Oct 25. Mol Genet Metab. 2010. PMID: 19963421 Review.

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