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ArticlesPeer ReviewedFull Text
Sanfilippo syndrome: A mini-review
Author / Creator:Valstar, M. J. ; Ruijter, G. J. G. ; van Diggelen, O. P. ; Poorthuis, B. J. ; Wijburg, F. A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.240-252
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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
Author / Creator:Voznyi, Ya. V. ; Keulemans, J. L. M. ; Diggelen, O. P.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2001-11, Vol.24 (6), p.675-680
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A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate
Author / Creator:Diggelen, O. P. ; Voznyi, Ya. V. ; Keulemans, J. L. M. ; Schoonderwoerd, K. ; Ledvinova, J. ; Mengel, E. ; Zschiesche, M. ; Santer, R. ; Harzer, K.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.733-741
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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates
Author / Creator:van Diggelen, O. P ; Oemardien, L. F ; van der Beek, N. A. M. E ; Kroos, M. A ; Wind, H. K ; Voznyi, Y. V ; Burke, D ; Jackson, M ; Winchester, B. G ; Reuser, A. J. J
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2009-06, Vol.32 (3), p.416-423
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Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings
Author / Creator:Giuffrè, B. ; Parini, R. ; Rizzuti, T. ; Morandi, L. ; Diggelen, O. P. ; Bruno, C. ; Giuffrè, M.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2004-01, Vol.27 (5), p.609-620
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Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8
Author / Creator:Ausseil, J ; Loredo-Osti, J C ; Verner, A ; Darmond-Zwaig, C ; Maire, I ; Poorthuis, B ; van Diggelen, O P ; Hudson, T J ; Fujiwara, T M ; Morgan, K ; Pshezhetsky, A V
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2004-12, Vol.41 (12), p.941-945
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Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency
Author / Creator:Morava, E. ; Wortmann, S. B. ; Essen, H. Zweers ; Sambeek, R. Liebrand ; Wevers, R. ; Diggelen, O. P.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.703-706
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External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study
Author / Creator:Ruijter, G. J. G. ; Boer, M. ; Weykamp, C. W. ; De Vries, R. ; Berg, I. ; Janssens‐Puister, J. ; Niezen‐Koning, K. ; Wevers, R. A. ; Poorthuis, B. J. H. M. ; Diggelen, O. P.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.979-990
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Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients
Author / Creator:Mancini, G.M.S. ; Stojanov, L. ; Willemsen, R. ; Kleijer, W.J. ; Huijmans, J.G.M. ; van Diggelen, O.P. ; de Klerk, J.B.C. ; Vuzevski, V.D. ; Oranje, A.P.
Publisher:Basel, Switzerland: Karger
Journal title:Dermatology (Basel), 1999-01, Vol.198 (1), p.18-25
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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
Author / Creator:Voznyi, Y V ; Keulemans, J L M ; Mancini, G M S ; Catsman-Berrevoets, C E ; Young, E ; Winchester, B ; Kleijer, W J ; van Diggelen, O P
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1999-06, Vol.36 (6), p.471-474
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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
Author / Creator:Schollen, E. ; Dorland, L. ; de Koning, T.J. ; Van Diggelen, O.P. ; Huijmans, J.G.M. ; Marquardt, T. ; Babovic-Vuksanovic, D. ; Patterson, M. ; Imtiaz, F. ; Winchester, B. ; Adamowicz, M. ; Pronicka, E. ; Freeze, H. ; Matthijs, G.
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2000-09, Vol.16 (3), p.247-252
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Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
Author / Creator:Bunge, Susanna ; Knigge, Astrid ; Steglich, Cordula ; Kleijer, Wim J ; van Diggelen, Otto P ; Beck, Michael ; Gal, Andreas
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1999-01, Vol.36 (1), p.28-32
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Studies on the pathogenesis of Costello syndrome
Author / Creator:Mancini, G M S ; van Diggelen, O P ; Kleijer, W J ; Di Rocco, M ; Farina, V ; Yuksel-Apak, M ; Kayserili, H ; Halley, D J J
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2003-04, Vol.40 (4), p.e37-37
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Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study
Author / Creator:Palmeri, Silvia ; Villanova, Marcello ; Malandrini, Alessandro ; van Diggelen, Otto P. ; Huijmans, Jean G.M. ; Ceuterick, Chantal ; Rufa, Alessandra ; DeFalco, Danilo ; Ciacci, Giuseppe ; Martin, Jean J. ; Guazzi, Giancarlo
Publisher:Basel, Switzerland: Karger
Journal title:European neurology, 2000-01, Vol.43 (2), p.88-94
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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype
Author / Creator:Keulemans, J L ; Reuser, A J ; Kroos, M A ; Willemsen, R ; Hermans, M M ; van den Ouweland, A M ; de Jong, J G ; Wevers, R A ; Renier, W O ; Schindler, D ; Coll, M J ; Chabas, A ; Sakuraba, H ; Suzuki, Y ; van Diggelen, O P
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1996-06, Vol.33 (6), p.458-464
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Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
Author / Creator:Kroos, M A ; Van der Kraan, M ; Van Diggelen, O P ; Kleijer, W J ; Reuser, A J ; Van den Boogaard, M J ; Ausems, M G ; Ploos van Amstel, H K ; Poenaru, L ; Nicolino, M
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1995-10, Vol.32 (10), p.836-837
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Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?
Author / Creator:Bakker, Henk D ; de Sonnaville, Marie-Louise CS ; Vreken, Peter ; Abeling, Nico GGM ; Groener, Johanna EM ; Keulemans, Joke LM ; van Diggelen, Otto P
Publisher:England
Journal title:European journal of human genetics : EJHG, 2001-02, Vol.9 (2), p.91-96
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Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency
Author / Creator:Ausems, M.G.E.M. ; Berg, K. ten ; Kroos, M.A. ; van Diggelen, O.P. ; Wevers, R.A. ; Poorthuis, B.J.H.M. ; Niezen-Koning, K.E. ; van der Ploeg, A.T. ; Beemer, F.A. ; Reuser, A.J.J. ; Sandkuijl, L.A. ; Wokke, J.H.J.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Community genetics, 1999, Vol.2 (2/3), p.91-96
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Coexistence of Gaucher disease type 1 and Joubert syndrome
Author / Creator:van Royen-Kerkhof, A ; Poll-The, B T ; Kleijer, W J ; van Diggelen, O P ; Aerts, J M ; Hopwood, J J ; Beemer, F A
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1998-11, Vol.35 (11), p.965-966
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The Natural Course of Infantile Pompe's Disease: 20 Original Cases Compared With 133 Cases From the Literature
Author / Creator:van den Hout, Hannerieke M. P ; Hop, Wim ; van Diggelen, Otto P ; Smeitink, Jan A. M ; Smit, G. Peter A ; Poll-The, Bwee-Tien T ; Bakker, Henk D ; Loonen, M. Christa B ; de Klerk, Johannis B. C ; Reuser, Arnold J. J ; van der Ploeg, Ans T
Publisher:Elk Grove Village, IL: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 2003-08, Vol.112 (2), p.332-340
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Showing 1 to 20 of 26 results

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Sanfilippo syndrome: A mini-review

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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

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A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate

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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

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Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings

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Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

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Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency

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External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study

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Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

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Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations

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Studies on the pathogenesis of Costello syndrome

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Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype

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Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

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Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?

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Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

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Coexistence of Gaucher disease type 1 and Joubert syndrome

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The Natural Course of Infantile Pompe's Disease: 20 Original Cases Compared With 133 Cases From the Literature

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