Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Inge E.T. van den Berg"'
Autor:
Renske A.M. de Kleijn, Harold V.M. van Rijen, Olle ten Cate, Rianne A. M. Bouwmeester, Inge E.T. van den Berg, Hendrika E. Westerveld
Publikováno v:
Computers & Education. 139:118-128
Engagement with homework assignments is important to be able to actively process content during in-class activities in flipped classroom education. Active engagement with the content is assumed to promote deeper understanding and to improve retention
Autor:
Helga E.M. Malingré, Ellen A.C.M. Van Beurden, L.E.O.W.J. Klomp, Ruud Berger, Inge E.T. van den Berg, Saskia M.M. Jacobs, Markus Grompe, Marjanka C. Luijerink
Publikováno v:
Kidney International. 66:990-1000
Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1. Background Hereditary tyrosinemia type 1 (HT1), which is associated with severe liver and kidney damage, is caused by deficiency of fuma
Autor:
Saskia M.M. Jacobs, Marjanka C. Luijerink, Ellen A.C.M. van Beurden, Leander P Koornneef, Inge E.T. van den Berg, Ruud Berger, Leo W. J. Klomp
Publikováno v:
Journal of Hepatology. 39:901-909
Background : Hereditary Tyrosinemia type I, caused by deficiency of fumarylacetoacetate hydrolase (FAH), is characterized by liver and kidney damage. Administration of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) corrects the tyro
Autor:
Peter T. Clayton, Simon Eaton, Albert Aynsley-Green, Mark Edginton, Khalid Hussain, Steve Krywawych, Vipan Datta, Helga E.M. Malingré, Ruud Berger, Inge E.T. van den Berg
Publikováno v:
Journal of Clinical Investigation. 108:457-465
Autor:
Inge E.T. van den Berg, An K. Stroobants, Patrick J.C.M. Vredendaal, Helga E.M. Malingré, Daphne L. van der A, Ruud Berger
Publikováno v:
Mammalian Genome. 9:763-768
The third step in the mitochondrial β-oxidation spiral of short-chain fatty acids is catalyzed by short-chain l-3-hydroxyacyl-CoA dehydrogenase (HADHSC; EC 1.1.1.35). We have determined the structural organization of the human HADHSC gene by sequenc
Autor:
Ellen A.C.M. van Beurden, Inge E.T. van den Berg, Helga E.M. Malingré, Ruud Berger, Marijke M. Boer, Johannis B.C. de Klerk, Otto P. van Diggelen
Publikováno v:
The American Journal of Human Genetics. 61(3):539-546
The association of autosomal recessive phosphorylase kinase deficiency in liver of a 3 1/2-year-old female child with mutations in the gene encoding the common part of the beta subunit of phosphorylase kinase is reported. The proband had a severe def
Autor:
An K. Stroobants, Inge E.T. van den Berg, Ruud Berger, Patrick J.C.M. Vredendaal, Danielle E.M. OldeWeghuis, Helga E.M. Malingré
Publikováno v:
Biochemical and Biophysical Research Communications. 223:718-723
The cDNA encompassing the complete coding sequence of human liver short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) was isolated and characterized. Screening of a cDNA library combined with rapid amplification of 5′ cDNA ends resulted in a SCHA
Autor:
Leo W. J. Klomp, Saskia M M Jacobs, Denis H. A. van Beurden, Ruud Berger, Inge E.T. van den Berg
Publikováno v:
Pediatric research. 59(3)
Children with hereditary tyrosinemia type 1 (HT1) suffer from liver failure, renal tubular dysfunction, and rickets. The disease is caused by deficiency of fumarylacetoacetate hydrolase (FAH), the last enzyme of tyrosine catabolism, and leads to accu
Autor:
Khalid Hussain, PB Mills, Peter E. Clayton, Steve Krywawych, Inge E.T. van den Berg, Ans J.J.M. Geboers, Ilenia Chatziandreou, Simon Eaton, D.W. Ginbey, Ruud Berger
Publikováno v:
The Journal of pediatrics. 146(5)
Fatty acids play an important role in regulating insulin secretion, but the mechanisms are unclear. We report a case of a novel splice site mutation in the short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) gene associated with hyperinsulinism. This
Autor:
Ruud Berger, Leo W. J. Klomp, Roderick H. J. Houwen, Inge E.T. van den Berg, Masja M van Oort, Saskia W.C. van Mil
Publikováno v:
Pediatric research. 56(6)
Mutations in ATP8B1 are associated with FIC1 disease, an autosomal recessive disorder in which intrahepatic cholestasis is the predominant manifestation. ATP8B1 encodes FIC1, which is expressed in several tissues, most prominently in the intestine, p