Berger R - Search Results

1

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.

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

3

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.

4

Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency.

de Koning TJ, Nikkels PG, Dorland L, Bekhof J, De Schrijver JE, van Hattum J, van Diggelen OP, Duran M, Berger R, Poll-The BT. de Koning TJ, et al. Among authors: berger r. Virchows Arch. 2000 Jul;437(1):101-5. doi: 10.1007/s004280000185. Virchows Arch. 2000. PMID: 10963387

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: 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.

6

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT. Cleary MA, et al. Among authors: berger r. J Inherit Metab Dis. 2005;28(5):673-9. doi: 10.1007/s10545-005-0074-1. J Inherit Metab Dis. 2005. PMID: 16151897

7

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

8

Peroxisomal disorders: a review.

Fournier B, Smeitink JA, Dorland L, Berger R, Saudubray JM, Poll-The BT. Fournier B, et al. Among authors: berger r. J Inherit Metab Dis. 1994;17(4):470-86. doi: 10.1007/BF00711362. J Inherit Metab Dis. 1994. PMID: 7967497 Review.

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

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

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