Berger R - Search Results

1

[Molecular genetic aspects of phenylketonuria (PKU)].

Giltay JC, van Hoef AM, de Weger R, Duran M, Berger R, Beemer FA. Giltay JC, et al. Among authors: berger r. Tijdschr Kindergeneeskd. 1991 Jun;59(3):77-80. Tijdschr Kindergeneeskd. 1991. PMID: 1677790 Review. Dutch.

2

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK. van der Sijs-Bos CJ, et al. Among authors: berger r. Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351. Hum Hered. 1996. PMID: 8807319

3

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA. Ausems MG, et al. Among authors: berger r. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

4

Group tests for selective screening of inborn errors of metabolism.

Duran M, Dorland L, Wadman SK, Berger R. Duran M, et al. Among authors: berger r. Eur J Pediatr. 1994;153(7 Suppl 1):S27-32. doi: 10.1007/BF02138774. Eur J Pediatr. 1994. PMID: 7957383

5

Selective screening for amino acid disorders.

Duran M, Dorland L, de Bree PK, Berger R. Duran M, et al. Among authors: berger r. Eur J Pediatr. 1994;153(7 Suppl 1):S33-7. doi: 10.1007/BF02138775. Eur J Pediatr. 1994. PMID: 7957384

6

Phenylpyruvate, fetal damage, and maternal phenylketonuria syndrome.

Dorland L, Poll-The BT, Duran M, Smeitink JA, Berger R. Dorland L, et al. Among authors: berger r. Lancet. 1993 May 22;341(8856):1351-2. doi: 10.1016/0140-6736(93)90866-f. Lancet. 1993. PMID: 8098485 No abstract available.

7

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

8

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.

9

Formiminoglutamic/hydantoinpropionic aciduria in two siblings.

Duran M, Dorland L, Meuleman EE, Renardel de Lavalette PA, Poll-The BT, Berger R. Duran M, et al. Among authors: berger r. J Inherit Metab Dis. 1993;16(1):155-6. doi: 10.1007/BF00711330. J Inherit Metab Dis. 1993. PMID: 8487495 No abstract available.

10

Plasma pipecolic acid is frequently elevated in non-peroxisomal disease.

Baas JC, van de Laar R, Dorland L, Duran M, Berger R, Poll-The BT, de Koning TJ. Baas JC, et al. Among authors: berger r. J Inherit Metab Dis. 2002 Dec;25(8):699-701. doi: 10.1023/a:1022889400302. J Inherit Metab Dis. 2002. PMID: 12705501

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