van den Berg I - Search Results

1

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: van oppen ac, van den berg i. Lancet. 2004 Dec 18-31;364(9452):2221-2. doi: 10.1016/S0140-6736(04)17596-X. Lancet. 2004. PMID: 15610810

2

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: van den berg ie. Hum Mutat. 2009 May;30(5):749-56. doi: 10.1002/humu.20934. Hum Mutat. 2009. PMID: 19235232

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: van beurden ea, van den berg ie, van maldergem l. 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

Prenatal diagnosis of type I hereditary tyrosinaemia.

Ploos van Amstel JK, Jansen RP, Verjaal M, van den Berg IE, Berger R. Ploos van Amstel JK, et al. Among authors: van den berg ie. Lancet. 1994 Jul 30;344(8918):336. doi: 10.1016/s0140-6736(94)91375-7. Lancet. 1994. PMID: 7914281 No abstract available.

5

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.

de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schryver J, Duran M, van den Berg IE, Gerwig GJ, Berger R, Poll-The BT. de Koning TJ, et al. Among authors: van noort wl, van diggelen op, van den berg ie. Biochem Biophys Res Commun. 1998 Apr 7;245(1):38-42. doi: 10.1006/bbrc.1998.8385. Biochem Biophys Res Commun. 1998. PMID: 9535779

6

Phosphorylase b kinase deficiency in man: a review.

Van den Berg IE, Berger R. Van den Berg IE, et al. J Inherit Metab Dis. 1990;13(4):442-51. doi: 10.1007/BF01799501. J Inherit Metab Dis. 1990. PMID: 2122111 Review.

7

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

8

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.

de Koning TJ, Toet M, Dorland L, de Vries LS, van den Berg IE, Duran M, Poll-The BT. de Koning TJ, et al. Among authors: van den berg ie. J Inherit Metab Dis. 1998 Aug;21(6):681-2. doi: 10.1023/a:1005496920435. J Inherit Metab Dis. 1998. PMID: 9762608 No abstract available.

9

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. Among authors: van den berg ie. Biochem Biophys Res Commun. 1997 Jul 30;236(3):544-8. doi: 10.1006/bbrc.1997.7006. Biochem Biophys Res Commun. 1997. PMID: 9245685

10

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: van den berg ie. 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

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