9 results for author:"van den Berg I.E.T." in Literature citations
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| Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. Tabatabaie L., de Koning T.J., Geboers A.J.J.M., van den Berg I.E.T., Berger R., Klomp L.W.J. |
| Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. van Mil S.W.C., van der Woerd W.L., van der Brugge G., Sturm E., Jansen P.L.M., Bull L.N., van den Berg I.E.T., Berger R., Houwen R.H.J., Klomp L.W.J. Gastroenterology 127:379-384(2004) · UniProtKB (1) · Mapped (4) |
| Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. Clayton P.T., Eaton S., Aynsley-Green A., Edginton M., Hussain K., Krywawych S., Datta V., Malingre H.E.M., Berger R., van den Berg I.E.T. J. Clin. Invest. 108:457-465(2001) · UniProtKB (1) |
| Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency -- a neurometabolic disorder associated with reduced L-serine biosynthesis. Klomp L.W.J., de Koning T.J., Malingre H.E.M., van Beurden E.A.C.M., Brink M., Opdam F.L., Duran M., Jaeken J., Pineda M., van Maldergem L. et al. Am. J. Hum. Genet. 67:1389-1399(2000) · UniProtKB (1) · Mapped (1) |
| Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Bergman A.J.I.W., van den Berg I.E.T., Brink W., Poll-The B.T., Ploos van Amstel J.K., Berger R. Hum. Mutat. 12:19-26(1998) · UniProtKB (1) |
| Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). van den Berg I.E.T., van Beurden E.A.C.M., de Klerk J.B.C., van Diggelen O.P., Malingre H.E.M., Boer M.M., Berger R. Am. J. Hum. Genet. 61:539-546(1997) · UniProtKB (1) |
| Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. Vredendaal P.J.C.M., van den Berg I.E.T., Malingre H.E.M., Stroobants A.K., Oldeweghuis D.E.M., Berger R. Biochem. Biophys. Res. Commun. 223:718-723(1996) · UniProtKB (1) |
| 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 J.K., Bergman A.J.I.W., van Beurden E.A.C.M., Roijers J.F.M., Peelen T., van den Berg I.E.T., Poll-The B.T., Kvittingen E.A., Berger R. Hum. Genet. 97:51-59(1996) · UniProtKB (1) |
| X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. van den Berg I.E.T., van Beurden E.A.C.M., Malingre H.E.M., Ploos van Amstel H.K., Poll-The B.T., Smeitink J.A.M., Lamers W.H., Berger R. Am. J. Hum. Genet. 56:381-387(1995) · UniProtKB (1) |