O. V. van Diggelen

发表

The frequency of lysosomal storage diseases in The Netherlands

R. A. Wevers, R. Wevers, B. Poorthuis, 1999, Human Genetics.

Intergenic complementation after fusion of fibroblasts from different patients with beta-galactosidase deficiency.

H. Galjaard, O. V. van Diggelen, H. Hoeksema, 1979, Biochimica et biophysica acta.

A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL.

B. Winchester, O. Diggelen, O. V. van Diggelen, 1999, Molecular genetics and metabolism.

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

O. V. van Diggelen, J. Keulemans, Y. Voznyi, 2001, Journal of Inherited Metabolic Disease.

Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

A. Federico, C. Bruno, R. Massa, 2008, Muscle & nerve.

Palmitoyl protein thioesterase 1 is targeted to the axons in neurons

L. Ahtiainen, A. Jalanko, O. V. van Diggelen, 2003, The Journal of comparative neurology.

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

W. Hop, B. Poll-The, J. Smeitink, 2003, Pediatrics.

Prenatal diagnosis of Niemann-Pick disease type C.

F. Beemer, W. Kleijer, J. De Winter, 1992, Clinica chimica acta; international journal of clinical chemistry.

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

L. Morandi, R. Parini, O. V. van Diggelen, 2004, Journal of Inherited Metabolic Disease.

Electrophoretic separation of Escherichia coli ribosomal particles on polyacrylamide gels.

L. Bosch, O. V. van Diggelen, A. Talens, 1973, European journal of biochemistry.

A diagnostic protocol for adult-onset glycogen storage disease type II

A. Reuser, M. Ausems, J. Wokke, 1999, Neurology.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

W. Hwu, Kate Zhang, Z. Lukacs, 2011, Molecular genetics and metabolism.

Spontaneous cell hybridization of somatic cells present in sperm suspensions.

D. Miller, D. Phillips, O. Miller, 1976, Experimental cell research.

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

A. T. van der Ploeg, G. Ruijter, O. V. van Diggelen, 2013, Molecular genetics and metabolism.

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

S. Dimauro, F. Zara, F. Mosca, 2004, Neurology.

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

G. Guazzi, A. Malandrini, M. Villanova, 2000, European Neurology.

Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

S. Seneca, L. de Meirleir, B. Poll-The, 1996, Human mutation.

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

M. Ausems, M. Kroos, A. T. van der Ploeg, 2007, Neurology.

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

L. Sandkuijl, R. Wevers, A. Reuser, 2000, Public Health Genomics.

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).

H. Galjaard, J. Kamerling, B. Poorthuis, 1990, Clinica chimica acta; international journal of clinical chemistry.

Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease

C. Tilikete, P. Taschner, S. Thobois, 2001, Annals of neurology.

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

S. Dimauro, H. J. Schelhaas, R. Wevers, 2008, Neurology.

Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up

W. Hop, W. Arts, A. Vulto, 2004, Annals of neurology.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

W. Hop, W. Arts, J. Smeitink, 2004, Pediatrics.

Coexistence of Gaucher disease type 1 and Joubert syndrome.

B. Poll-The, F. Beemer, J. Hopwood, 1998, Journal of medical genetics.

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

W. Kleijer, A. Oranje, O. V. van Diggelen, 1999, Dermatology.

Acquired lysosomal storage caused by frequent plasmapheresis procedures with hydroxyethyl starch

P. Sonneveld, F. Leebeek, J. Wilson, 2006, Transfusion.

The association of ribosomal subunits of Escherichia coli. 1. Two types of association products differing in their apparent sedimentation coefficient.

L. Bosch, O. V. van Diggelen, Otto P. van Diggelen, 1973, European journal of biochemistry.

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

A. Reuser, M. Ausems, H. K. Ploos van Amstel, 1995, Journal of Medical Genetics.

Glycogenosis type II (acid maltase deficiency)

A. Reuser, M. Kroos, W. Kleijer, 1995, Muscle & nerve. Supplement.

Genotype‐phenotype correlation in adult‐onset acid maltase deficiency

A. Reuser, M. Ausems, E. Ippel, 1995, Annals of neurology.

The association of ribosomal subunits of Escherichia coli. 2. Two types of association products differing in sensitivity to hydrostatic pressure generated during centrifugation.

L. Bosch, O. V. van Diggelen, H. Oostrom, 1973, European journal of biochemistry.

Formation of 61 s and 70 s particles from ribosomal subunits of Escherichia coli.

F. Kalousek, O. V. van Diggelen, H. L. Heinsius, 1971, Journal of molecular biology.

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases the nomenclature used for neutral glycolipids follows the IUPAC-IUB recommendation (1). DOI 10.1194/jlr.M100423-JLR200

R. Desnick, D. Schindler, A. Chabás, 2002, Journal of Lipid Research.

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

A. Reuser, M. Kroos, H. Takeuchi, 2006, Molecular genetics and metabolism.

Reduction in cellular tumorigenicity after mycoplasma infection and elimination of mycoplasma from infected cultures by passage in nude mice.

D. Phillips, O. V. van Diggelen, S. Shin, 1977, Cancer research.

Association products of native and derived ribosomal subunits of E. coli and their stability during centrifugation

L. Bosch, O. V. van Diggelen, H. Oostrom, 1971, FEBS letters.

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

K. G. Coleman, M. Polymeropoulos, W. Pavan, 1997, Science.

Specific inactivation of lysosomal glycosidases in living fibroblasts by the corresponding glycosylmethyl-p-nitrophenyltriazenes.

H. Galjaard, M. Sinnott, P. J. Smith, 1980, The Biochemical journal.

Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis

W. Kleijer, O. Diggelen, M. Niermeijer, 1985, Prenatal diagnosis.

Characteristics of maltase activity in amniotic fluid.

H. J. Sips, H. Hauri, E. Sterchi, 1985, Clinica chimica acta; international journal of clinical chemistry.

Basis for differential cellular sensitivity to 8‐azaguanine and 6‐thioguanine

T. Donahue, O. V. van Diggelen, S. Shin, 1979, Journal of cellular physiology.

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

A. V. D. van den Ouweland, D. Schindler, R. Wevers, 1996, Journal of medical genetics.

Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease.

J. Peter-Katalinic, H. Galjaard, D. Schindler, 1987, Lancet.

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.

D. Schindler, R. Wevers, R. Willemsen, 1994, The Journal of pediatrics.

Storage of sialic acid-containing carbohydrates in the placenta of a human galactosialidosis fetus. Isolation and structural characterization of 16 sialyloligosaccharides.

H. Galjaard, J. Kamerling, O. V. van Diggelen, 1988, European journal of biochemistry.

Two genetically different MU-NANA neuraminidases in human leucocytes.

H. Galjaard, F. Verheijen, O. V. van Diggelen, 1983, Biochemical and biophysical research communications.

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.

L. Peltonen, J. Saarela, A. Jalanko, 2004, Human molecular genetics.

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

C. Catsman-Berrevoets, W. Kleijer, E. Young, 1999, Journal of medical genetics.

Prenatal diagnosis of the neuronal ceroid lipofuscinoses

W. Kleijer, O. Diggelen, O. V. van Diggelen, 2000, Prenatal diagnosis.

New mutations in the neuronal ceroid lipofuscinosis genes.

P. Taschner, P. Franken, I. Järvelä, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

First‐trimester diagnosis of late‐infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

H. Stroink, P. Taschner, M. Losekoot, 2001, Prenatal diagnosis.

Juvenile‐onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl‐protein thioesterase deficiency

T. Autti, I. Sorri, I. Järvelä, 2007, European journal of neurology.

P. Sonneveld, F. Leebeek, O. V. van Diggelen, 2007 .

Null mutations and lethal congenital form of glycogen storage disease type IV.

C. Bruno, L. Diogo, P. Garcia, 2007, Biochemical and biophysical research communications.

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

P. Vreken, N. Abeling, J. Groener, 2001, European journal of human genetics : EJHG.

Studies on the pathogenesis of Costello syndrome

H. Kayserili, W. Kleijer, M. Di Rocco, 2003, Journal of medical genetics.

Endogenous HPRT activity in a cryptic strain of mycoplasma and its effect on cellular resistance to selective media in infected cell lines.

D. Phillips, O. V. van Diggelen, S. Shin, 1977, Experimental cell research.

Beta-mannosidosis in two brothers with hearing loss.

M. Durán, L. Dorland, K. Cransberg, 1988, Journal of inherited metabolic disease.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

T. Hudson, A. Verner, A. Pshezhetsky, 2006, American journal of human genetics.

Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome.

S. Karsten, U. Pettersson, M. Bondeson, 1997, Genomics.

First trimester diagnosis of Wolman's disease

W. Kleijer, H. von Koskull, O. V. van Diggelen, 1988, Prenatal diagnosis.

Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assay

W. Kleijer, E. Young, O. V. van Diggelen, 1990, Prenatal Diagnosis.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b

H. Omran, R. Wevers, A. Bertoli-Avella, 2010, Human mutation.

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

A. Pshezhetsky, R. Wevers, J. M. van de Kamp, 2008, Molecular genetics and metabolism.

Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay

W. Kleijer, J. Zaremba, Wang He, 1994, Prenatal diagnosis.

Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin

W. Kleijer, D. Wenger, O. V. van Diggelen, 1997, Journal of Inherited Metabolic Disease.

PRENATAL DIAGNOSIS OF SANFILIPPO A SYNDROME: EXPERIENCE IN 35 PREGNANCIES AT RISK AND THE USE OF A NEW FLUOROGENIC SUBSTRATE FOR THE HEPARIN SULPHAMIDASE ASSAY

W. Kleijer, O. V. van Diggelen, J. Keulemans, 1996, Prenatal diagnosis.

Prenatal analyses in a pregnancy at risk for β‐mannosidosis

R. Wevers, W. Kleijer, O. V. van Diggelen, 1992 .

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype‐phenotype correlations

R. Wevers, D. Halley, B. Poorthuis, 2010, Annals of neurology.

Enzymatic diagnosis of Morquio A syndrome with a new fluorimetric substrate.

W. Kleijer, O. V. van Diggelen, H. Zhao, 1991, Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih.

A congenital variant of glycogenosis type IV.

R. Hennekam, O. V. van Diggelen, G. van Noort, 1993, Pediatric pathology.

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype

M. Kroos, W. Kleijer, O. V. van Diggelen, 1997, Human mutation.

Turnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency.

H. Galjaard, M. Sinnott, P. J. Smith, 1981, The Biochemical journal.

Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III.

O. V. van Diggelen, G. Smit, H. Janse, 1985, Clinica chimica acta; international journal of clinical chemistry.

Ichthyosis. Reliability of clinical signs in the differentiation between autosomal dominant and sex-linked forms.

M. Bousema, O. V. van Diggelen, B. Naafs, 1989, International journal of dermatology.

Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form.

W. Arts, W. Kleijer, O. V. van Diggelen, 1985, Neuropediatrics.

Magnetic resonance imaging findings in mild mucopolysaccharidosis II (Hunter's syndrome).

D. Zafeiriou, O. V. van Diggelen, G. Katzos, 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Prenatal detection of cystic fibrosis; comparative study of maltase and alkaline phosphatase activities in amniotic fluid

H. J. Sips, W. Kleijer, E. van der Veer, 1986, Prenatal diagnosis.

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl‐CoA: α‐glucosaminide N‐acetyltransferase (HGSNAT) gene

A. Pshezhetsky, S. Kmoch, R. Laframboise, 2009, Human mutation.

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

W. Kleijer, A. Gal, S. Bunge, 1999, Journal of medical genetics.

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

J. Hopwood, W. Kleijer, A. Gal, 1997, Human mutation.

First‐trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

B. D. de Vries, C. Catsman-Berrevoets, M. Losekoot, 1999, Prenatal diagnosis.

Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).

C. Tilikete, S. Thobois, W. Kleijer, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Cathepsin A Deficiency in Galactosialidosis: Studies of Patients and Carriers in 16 Families

N. Galjart, H. Galjaard, X. Zhou, 1996, Pediatric Research.