Search Results - "Malingré, H E"

Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis by Klomp, Leo W.J., de Koning, Tom J., Malingré, Helga E.M., van Beurden, Ellen A.C.M., Brink, Miny, Opdam, Frans L., Duran, Marinus, Jaeken, Jaak, Pineda, Merce, van Maldergem, Lionel, Poll-The, Bwee Tien, van den Berg, Inge E.T., Berger, Ruud

“…3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor…”
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X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase α subunit by VAN DEN BERG, I. E. T, VAN BEURDEN, E. A. C. M, MALINGRE, H. E. M, PLOOS VAN AMSTEL, H. K, BWEE TIEN POLL-THE, SMEITINK, J. A. M, LAMERS, W. H, BERGER, R

“…Two Dutch patients with liver phosphorylase kinase (PhK) deficiency were studied for abnormalities in the PhK liver alpha (alpha L) subunit mRNA by…”
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Autosomal Recessive Phosphorylase Kinase Deficiency in Liver, Caused by Mutations in the Gene Encoding the β Subunit ( PHKB) by van den Berg, Inge E.T., van Beurden, Ellen A.C.M., de Klerk, Johannis B.C., van Diggelen, Otto P., Malingré, Helga E.M., Boer, Marijke M., Berger, Ruud

“…The association of autosomal recessive phosphorylase kinase deficiency in liver of a 3½-year-old female child with mutations in the gene encoding the common…”
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Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion by Clayton, P T, Eaton, S, Aynsley-Green, A, Edginton, M, Hussain, K, Krywawych, S, Datta, V, Malingre, H E, Berger, R, van den Berg, I E

“…A female infant of nonconsanguineous Indian parents presented at 4 months with a hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were…”
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Human Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase: Cloning and Characterization of the Coding Sequence by Vredendaal, Patrick J.C.M., van den Berg, Inge E.T., Malingré, Helga E.M., Stroobants, An K., OldeWeghuis, Danielle E.M., Berger, Ruud

“…The cDNA encompassing the complete coding sequence of human liver short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) was isolated and characterized…”
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Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene by Vredendaal, P J, van den Berg, I E, Stroobants, A K, van der A, D L, Malingré, H E, Berger, R

“…The third step in the mitochondrial beta-oxidation spiral of short-chain fatty acids is catalyzed by short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADHSC; EC…”
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