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La ricerca find articoli where authors phrase all words 'de Koning, TJ' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 13 riferimenti
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    1. Sjarif, DR; Revesz, T; de Koning, TJ; Duran, M; Beemer, FA; Poll-The, BT
      Isolated glycerol kinase deficiency and Fanconi anemia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    2. Spaapen, LJM; Bakker, JA; Velter, C; Loots, W; Rubio-Gonzalbo, ME; Forget, PP; Dorland, L; De Koning, TJ; Poll-The, BT; Van Amstel, HKP; Bekhof, J; Blau, N; Duran, M
      Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

      JOURNAL OF INHERITED METABOLIC DISEASE
    3. Schollen, E; Dorland, L; de Koning, TJ; Van Diggelen, OP; Huijmans, JGM; Marquardt, T; Babovic-Vuksanovic, D; Patterson, M; Imtiaz, F; Winchester, B; Adamowicz, M; Pronicka, E; Freeze, H; Matthijs, G
      Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

      HUMAN MUTATION
    4. de Koning, TJ; Nikkels, PGJ; Dorland, L; Bekhof, J; De Schrijver, JEAR; van Hattum, J; van Diggelen, OP; Duran, M; Barger, R; Poll-The, BT
      Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    5. de Koning, TJ; Duran, M; Dorland, L; Jakobs, C; Wevers, RA; Berger, R; Poll-The, BT
      Neurotransmitters in 8-phosphoglycerate dehydrogenase deficiency

      EUROPEAN JOURNAL OF PEDIATRICS
    6. de Koning, TJ; Jaeken, J; Pineda, M; Van Maldergem, L; Poll-The, BT; van der Knaap, MS
      Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

      NEUROPEDIATRICS
    7. Sjarif, DR; Dorland, L; Sperl, W; de Koning, TJ; Beemer, FA; Poll-The, BT; Duran, M
      Hyperketonaemia in glycerol kinase deficiency

      JOURNAL OF INHERITED METABOLIC DISEASE
    8. Poll-The, BT; Frenkel, J; Houten, SM; Kuis, W; Duran, M; De Koning, TJ; Dorland, L; De Barse, MMJ; Romeijn, GJ; Wanders, RJA; Waterham, HR
      Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

      JOURNAL OF INHERITED METABOLIC DISEASE
    9. Klomp, LWJ; de Koning, TJ; Malingre, HEM; van Beurden, EACM; Brink, M; Opdam, FL; Duran, M; Jaeken, J; Pineda, M; van Maldergem, L; Poll-The, BT; van den Berg, IET; Berger, R
      Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Houten, SM; Kuis, W; Duran, M; de Koning, TJ; van Royen-Kerkhof, A; Romeijn, GJ; Frenkel, J; Dorland, L; de Barse, MMJ; Huijbers, WAR; Rijkers, GT; Waterham, HR; Wanders, RJA; Poll-The, BT
      Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

      NATURE GENETICS
    11. de Koning, TJ; de Vries, LS; Groenendaal, F; Ruitenbeek, W; Jansen, GH; Poll-The, BT; Barth, PG
      Pontocerebellar hypoplasia associated with respiratory-chain defects

      NEUROPEDIATRICS
    12. de Koning, TJ; Poll-The, BT; Jaeken, J
      Continuing education in neurometabolic disorders - Serine deficiency disorders

      NEUROPEDIATRICS
    13. de Koning, TJ; Dorland, L; Henegouwen, GPV
      Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy

      JOURNAL OF HEPATOLOGY


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/10/20 alle ore 23:54:41