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    1. Bakker, HD; de Sonnaville, MLCS; Vreken, P; Abeling, NGGM; Groener, JEM; Keulemans, JLM; van Diggelen, OP
      Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

      EUROPEAN JOURNAL OF HUMAN GENETICS
    2. van Diggelen, OP; Thobois, S; Tilikete, C; Zabot, MT; Keulemans, JLM; van Bunderen, PA; Taschner, PEM; Losekoot, M; Voznyi, YV
      Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

      ANNALS OF NEUROLOGY
    3. Kleijer, WJ; van Diggelen, OP; Keulemans, JLM; Losekoot, M; Garritsen, VH; Stroink, H; Majoor-Krakauer, D; Franken, PF; Eurlings, MCM; Taschner, PEM; Los, FJ; Galjaard, RJH
      First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis(LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

      PRENATAL DIAGNOSIS
    4. Mancini, GMS; van Diggelen, OP; Huijmans, JG; Stroink, H; de Coo, RFM
      Pitfalls in the diagnosis of multiple sulfatase deficiency

      NEUROPEDIATRICS
    5. Voznyi, YV; Keulemans, JLM; van Diggelen, OP
      A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

      JOURNAL OF INHERITED METABOLIC DISEASE
    6. Ausems, MGEM; Wokke, JHJ; Reuser, AJJ; van Diggelen, OP
      Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation

      NEUROLOGY
    7. Aasly, J; van Diggelen, OP; Boer, AM; Bronstad, G
      Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms

      EUROPEAN JOURNAL OF NEUROLOGY
    8. 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
    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. Kleijer, WJ; Geilen, GC; Garritsen, V; Huijmans, JGM; Los, FJ; Voznyi, YV; van Diggelen, OP
      First-trimester diagnosis of Morquio disease type A

      PRENATAL DIAGNOSIS
    11. Kleijer, WJ; van Diggelen, OP
      Prenatal diagnosis of the neuronal ceroid lipofuscinoses

      PRENATAL DIAGNOSIS
    12. Palmeri, S; Villanova, M; Malandrini, A; van Diggelen, OP; Huijmans, JGM; Ceuterick, C; Rufa, A; DeFalco, D; Ciacci, G; Martin, JJ; Guazzi, G
      Type I sialidosis: A clinical, biochemical and neuroradiological study

      EUROPEAN NEUROLOGY
    13. Umapathysivam, K; Whittle, AM; Ranieri, E; Bindloss, C; Ravenscroft, EM; van Diggelen, OP; Hopwood, JJ; Meikle, PJ
      Determination of acid alpha-glucosidase protein: Evaluation as a screeningmarker for pompe disease and other lysosomal storage disorders

      CLINICAL CHEMISTRY
    14. van Diggelen, OP; Keulemans, JLM; Winchester, B; Hofman, IL; Vanhanen, SL; Santavuori, P; Voznyi, YV
      A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL

      MOLECULAR GENETICS AND METABOLISM
    15. Mancini, GMS; Stojanov, L; Willemsen, R; Kleijer, WJ; Huijmans, JGM; van Diggelen, OP; de Klerk, JBC; Vuzevski, VD; Oranje, AP
      Juvenile hyaline fibromatosis: Clinical heterogeneity in three patients

      DERMATOLOGY
    16. Stone, DL; van Diggelen, OP; de Klerk, JBC; Gaillard, JLJ; Niermeijer, MF; Willemsen, R; Tayebi, N; Sidransky, E
      Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

      EUROPEAN JOURNAL OF HUMAN GENETICS
    17. Regis, S; Filocamo, M; Corsolini, F; Caroli, F; Keulemans, JLM; van Diggelen, OP; Gatti, R
      An Asn -> Lys substitution in saposin B involving a conserved amino acidicresidue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity

      EUROPEAN JOURNAL OF HUMAN GENETICS
    18. Poorthuis, BJHM; Wevers, RA; Kleijer, WJ; Groener, JEM; de Jong, JGN; van Weely, S; Niezen-Koning, KE; van Diggelen, OP
      The frequency of lysosomal storage diseases in The Netherlands

      HUMAN GENETICS
    19. de Vries, BBA; Kleijer, WJ; Keulemans, JLM; Voznyi, YV; Franken, PF; Eurlings, MCM; Galjaard, RJ; Losekoot, M; Catsman-Berrevoets, CE; Breuning, MH; Taschner, PEM; van Diggelen, OP
      First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

      PRENATAL DIAGNOSIS
    20. de Vries, BBA; Eussen, BHJ; van Diggelen, OP; van der Heide, A; Deelen, WH; Govaerts, LCP; Lindhout, D; Wouters, CH; Van Hemel, JO
      Submicroscopic xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. 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
    22. Ausems, MGEM; Lochman, P; van Diggelen, OP; van Amstel, HKP; Reuser, AJJ; Wokke, JHJ
      A diagnostic protocol for adult-onset glycogen storage disease type II

      NEUROLOGY
    23. Voznyi, YV; Keulemans, JLM; Mancini, GMS; Catsman-Berrevoets, CE; Young, E; Winchester, B; Kleijer, WJ; van Diggelen, OP
      A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

      JOURNAL OF MEDICAL GENETICS
    24. Bunge, S; Knigge, A; Steglich, C; Kleijer, WJ; van Diggelen, OP; Beck, M; Gal, A
      Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novelalpha-N-acetylglucosaminidase gene mutations

      JOURNAL OF MEDICAL GENETICS
    25. Lohse, P; Maas, S; Lohse, P; Sewell, AC; van Diggelen, OP; Seidel, D
      Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease

      JOURNAL OF LIPID RESEARCH
    26. Beyer, EM; Karpova, EA; Udalova, OV; van Amstel, JKP; van Diggelen, OP; Tsvetkova, IV
      The multiple cases of Fabry disease in a Russian family caused by an E341Kamino acid substitution in the alpha-galactosidase A

      CLINICA CHIMICA ACTA


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/10/20 alle ore 23:47:24