Search Results - "Van Diggelen, O. P."

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) by BRUNO, C, VAN DIGGELEN, O. P, MORA, M, TONOLI, E, MASCELLI, S, TRAVERSO, M, PASQUINI, E, BADO, M, VILARINHO, L, VAN NOORT, G, MOSCA, F, DIMAURO, S, CASSANDRINI, D, ZARA, F, MINETTI, C, GIMPELEV, M, GIUFFRE, B, DONATI, M. A, INTROVINI, P, ALEGRIA, A, ASSERETO, S, MORANDI, L

“…Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and…”
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Sanfilippo syndrome: A mini-review by Valstar, M. J., Ruijter, G. J. G., van Diggelen, O. P., Poorthuis, B. J., Wijburg, F. A.

“…Summary Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, caused by a deficiency in one of the four enzymes…”
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Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? by ORNGREEN, M. C, SCHELHAAS, H. J, JEPPESEN, T. D, AKMAN, H. O, WEVERS, R. A, ANDERSEN, S. T, TER LAAK, H. J, VAN DIGGELEN, O. P, DIMAURO, S, VISSING, J

“…It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related symptoms and impaired muscle metabolism,…”
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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease) by Voznyi, Ya. V., Keulemans, J. L. M., Diggelen, O. P.

“…4‐Methylumbelliferyl‐α‐iduronate 2‐sulphate was synthesized and shown to be a specific substrate for the lysosomal iduronate‐2‐sulphate sulphatase (IDS)…”
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Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype by KROOS, M. A, POMPONIO, R. J, HALLEY, D. J. J, VAN DER PLOEG, A. T, REUSER, A. J. J, HAGEMANS, M. L, KEULEMANS, J. L. M, PHIPPS, M, DERISO, M, PALMER, R. E, AUSEMS, M. G. E. M, VAN DER BEEK, N. A. M. E, VAN DIGGELEN, O. P

“…Pompe disease (acid maltase deficiency, glycogen storage disease type II; OMIM 232300) is an autosomal recessive lysosomal storage disorder characterized by…”
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A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate by Diggelen, O. P., Voznyi, Ya. V., Keulemans, J. L. M., Schoonderwoerd, K., Ledvinova, J., Mengel, E., Zschiesche, M., Santer, R., Harzer, K.

“…Summary 6‐Hexadecanoylamino‐4‐methylumbelliferylphosphorylcholine (HMUPC) was shown to be a specific substrate for the determination of acid (lysosomal)…”
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Elevated plasma chitotriosidase activity in various lysosomal storage disorders by Guo, Yufeng, He, Wang, Boer, A. M., Wevers, R. A., Bruijn, A. M., Groener, J. E. M., Hollak, C. E. M., Aerts, J. M. F. G., Galjaard, H., Diggelen, O. P.

“…Summary Recently a striking elevation of the activity of chitotriosidase, an endo β‐glucosaminidase distinct from lysozyme, was found in plasma from patients…”
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Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K by Harzer, K, Rolfs, A, Bauer, P, Zschiesche, M, Mengel, E, Backes, J, Kustermann-Kuhn, B, Bruchelt, G, van Diggelen, O P, Mayrhofer, H, Krägeloh-Mann, I

“…This study describes a diagnostic pitfall in the laboratory diagnosis of patients with sphingomyelinase deficiency (SMD; Niemann-Pick disease types A and B;…”
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Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands by Ruijter, G.J.G., Valstar, M.J., van de Kamp, J.M., van der Helm, R.M., Durand, S., van Diggelen, O.P., Wevers, R.A., Poorthuis, B.J., Pshezhetsky, A.V., Wijburg, F.A.

“…Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme…”
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A diagnostic protocol for adult-onset glycogen storage disease type II by AUSEMS, M. G. E. M, LOCHMAN, P, VAN DIGGELEN, O. P, PLOOS VAN AMSTEL, H. K, REUSER, A. J. J, WOKKE, J. H. J

“…To analyze the diagnostic value of various laboratory tests for the confirmation of adult-onset glycogen storage disease type II (GSD II), we performed a…”
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Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8 by 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

“…Mucopolysaccharidosis type IIIC (MPS IIIC, or Sanfilippo syndrome C) is a rare lysosomal storage disorder caused by a deficiency of acetyl-coenzyme…”
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Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings by Giuffrè, B., Parini, R., Rizzuti, T., Morandi, L., Diggelen, O. P., Bruno, C., Giuffrè, M.

“…Glycogenosis type IV is an autosomal recessive disease, exceptionally diagnosed at birth: only very few reports of the fatal perinatal neuromuscular form have…”
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Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD by Westermann, C.M., Dorland, L., van Diggelen, O.P., Schoonderwoerd, K., Bierau, J., Waterham, H.R., van der Kolk, J.H.

“…Earlier research on ten horses suffering from the frequently fatal disorder atypical myopathy showed that MADD (multiple acyl-CoA dehydrogenase deficiency) is…”
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Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency by Morava, E., Wortmann, S. B., Essen, H. Zweers, Sambeek, R. Liebrand, Wevers, R., Diggelen, O. P.

“…Summary Patients with glycogen storage disease type IXa present with infantile hepatomegaly and a specific growth pattern, and variable biochemical alterations…”
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External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study by 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.

“…Inborn errors of metabolism are rare and laboratories performing diagnostic tests in this field must participate in external quality assurance (EQA) schemes to…”
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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates by 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

“…Enzyme analysis for Pompe disease in leukocytes has been greatly improved by the introduction of acarbose, a powerful inhibitor of interfering α-glucosidases,…”
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Juvenile hyaline fibromatosis: clinical heterogeneity in three patients by Mancini, G M, Stojanov, L, Willemsen, R, Kleijer, W J, Huijmans, J G, van Diggelen, O P, de Klerk, J B, Vuzevski, V D, Oranje, A P

“…Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in…”
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Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency by DE KONING, T. J, NIKKELS, P. G. J, DORLAND, L, BEKHOF, J, DE SCHRIJVER, J. E. A. R, VAN HATTUM, J, VAN DIGGELEN, O. P, DURAN, M, BERGER, R, POLL-THE, B. T

“…Congenital hepatic fibrosis is a rare disorder of intrahepatic bile ducts with the persistence of embryological bile duct structures in ductal plate…”
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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants by 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

“…Palmitoyl-protein thioesterase (PPT) deficiency was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The available…”
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Pitfalls in the diagnosis of multiple sulfatase deficiency by Mancini, G M, van Diggelen, O P, Huijmans, J G, Stroink, H, de Coo, R F

“…Multiple sulfatase deficiency (MSD, OMIM 272200) is an autosomal recessive leukodystrophy associated with the deficiency of several, in total seven,…”
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