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La ricerca find articoli where authors phrase all words ' Poll-The, BT' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 29 riferimenti
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    1. Frenkel, J; Houten, SM; Waterham, HR; Wanders, RJA; Rijkers, GT; Duran, M; Kuijpers, TW; van Luijk, W; Poll-The, BT; Kuis, W
      Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D

      RHEUMATOLOGY
    2. Houten, SM; Koster, J; Romeijn, GJ; Frenkel, J; Di Rocco, M; Caruso, U; Landrieu, P; Kelley, RI; Kuis, W; Poll-The, BT; Gibson, KM; Wanders, RJA; Waterham, HR
      Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. Houten, SM; Koster, J; Romeijn, GJ; Frenkel, J; Di Rocco, M; Caruso, U; Landrieu, P; Kelley, RI; Kuis, W; Poll-The, BT; Gibson, KM; Wanders, RJA; Waterham, HR
      Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Rosenberg, C; Wouters, CH; Szuhai, K; Dorland, R; Pearson, P; Poll-The, BT; Colombijn, RM; Bruning, M; Lindhout, D
      A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

      EUROPEAN JOURNAL OF HUMAN GENETICS
    5. Lopriore, E; Gemke, RJBJ; Verhoeven, NM; Jakobs, C; Wanders, RJA; Roeleveld-Versteeg, ABC; Poll-The, BT
      Carnitine-acylcaraitine translocase deficiency: phenotype, residual enzymeactivity and outcome

      EUROPEAN JOURNAL OF PEDIATRICS
    6. 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
    7. 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
    8. Sistermans, EA; de Coo, RFM; van Beerendonk, HM; Poll-The, BT; Kleijer, WJ; van Oost, BA
      Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. 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
    10. Kerckaert, I; Poll-The, BT; Espeel, M; Duran, M; Roeleveld, ABC; Wanders, RJA; Roels, F
      Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    11. Frenkel, J; Houten, SM; Waterham, HR; Wanders, RJA; Rijkers, GT; Kimpen, JLL; Duran, R; Poll-The, BT; Kuis, W
      Mevalonate kinase deficiency and Dutch type periodic fever

      CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
    12. 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
    13. Marie, S; Flipsen, JWAM; Duran, M; Poll-The, BT; Beemer, FA; Bosschaart, AN; Vincent, MF; Van den Berghe, G
      Prenatal diagnosis in adenylosuccinate lyase deficiency

      PRENATAL DIAGNOSIS
    14. 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
    15. 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
    16. Sjarif, DR; van Amstel, JKP; Duran, M; Beemer, FA; Poll-The, BT
      Isolated and contiguous glycerol kinase gene disorders: A review

      JOURNAL OF INHERITED METABOLIC DISEASE
    17. 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
    18. Houten, SM; Frenkel, J; Kuis, W; Wanders, RJA; Poll-The, BT; Waterham, HR
      Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene

      JOURNAL OF INHERITED METABOLIC DISEASE
    19. Zomer, AWM; van der Burg, B; Jansen, GA; Wanders, RJA; Poll-The, BT; van der Saag, PT
      Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferater-activated receptor alpha

      JOURNAL OF LIPID RESEARCH
    20. 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
    21. 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
    22. Lilien, M; Duran, M; Van Hoeck, K; Poll-The, BT; Schroder, C
      Hyperhomocyst(e)inaemia in children with chronic renal failure

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    23. 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
    24. de Koning, TJ; Poll-The, BT; Jaeken, J
      Continuing education in neurometabolic disorders - Serine deficiency disorders

      NEUROPEDIATRICS
    25. Knol, IE; Ausems, MGEM; Lindhout, D; van Diggelen, OP; Verwey, H; Davies, J; van Amstel, JKP; Poll-The, BT
      Different phenotypic expression in relatives with Fabry disease caused by a W226X mutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Custers, JWH; Poll-The, BT; Duran, M; de Klerk, JBC; Uiterwaal, CSPM; Helders, PJM
      Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency

      JOURNAL OF INHERITED METABOLIC DISEASE
    27. Costa, CCG; De Almeida, IT; Jakobs, C; Poll-The, BT; Duran, M
      Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children

      PEDIATRIC RESEARCH
    28. Van Royen-Kerkhof, A; Poll-The, BT; Beemer, FA
      Coexistence of Gaucher disease type 1 and Joubert syndrome - Reply

      JOURNAL OF MEDICAL GENETICS
    29. de Haas, V; Weber, ECC; de Klerk, JBC; Bakker, HD; Smit, GPA; Huijbers, WAR; Duran, M; Poll-The, BT
      The success of dietary protein restriction in alkaptonuria patients is age-dependent

      JOURNAL OF INHERITED METABOLIC DISEASE


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/10/20 alle ore 18:44:26