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51

Non-neuronopathic Gaucher disease due to saposin C deficiency

A Tylki-Szymańska, B Czartoryska, M-T Vanier, BJMH Poorthuis, JAE Groener, A Ługowska, G Millat, AM Vaccaro, E Jurkiewicz

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 208 KB

english, 2007

52

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

D Hofer, K Paul, K Fantur, M Beck, A Roubergue, A Vellodi, BJ Poorthuis, H Michelakakis, B Plecko, E Paschke

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 665 KB

english, 2010

53

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation

MG Bouwman, SM Rombach, GE Linthorst, BJHM Poorthuis, RH Lekanne Deprez, JMFG Aerts, FA Wijburg

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 515 KB

english, 2011

54

I Like Me If You Like Me: On the Interpersonal Modulation and Regulation of Preadolescents’ State Self-Esteem

Sander Thomaes, Albert Reijntjes, Bram Orobio de Castro, Brad J. Bushman, Astrid Poorthuis, Michael J. Telch

Journal:

Child Development

Year:

2010

Language:

english

File:

PDF, 319 KB

english, 2010

55

Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residues

Cees Bruggink, Ben J. H. M. Poorthuis, Monique Piraud, Roseline Froissart, André M. Deelder, Manfred Wuhrer

Journal:

Year:

2010

Language:

english

File:

PDF, 727 KB

english, 2010

56

Increased Melanogenesis is a Risk Factor for Oxidative DNA Damage— Study on Cultured Melanocytes and Atypical Nevus Cells

Nico P. M. Smit, Frans A. Van Nieuwpoort, Laurent Marrot, Coby Out, Ben Poorthuis, Hans Van Pelt, Jean-Roch Meunier, Stan Pavel

Journal:

Photochemistry and Photobiology

Year:

2008

Language:

english

File:

PDF, 296 KB

english, 2008

57

Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression

Bredius, R G M, Laan, L A E M, Lankester, A C, Poorthuis, B J H M, Tol, M J D van, Egeler, R M, Arts, W F M

Journal:

Bone Marrow Transplantation

Year:

2007

Language:

english

File:

PDF, 75 KB

english, 2007

58

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

Weber, Birgit, Guo, Xiao-Hui, Kleijer, Wim J, van de Kamp, Jacques JP, Poorthuis, Ben JHM, Hopwood, John J

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 190 KB

english, 1999

59

Adenylosuccinase deficiency presenting with epilepsy in early infancy

P.D. Maaswinkel-Mooij, L. A. E. M. Laan, W. Onkenhout, O. F. Brouwer, J. Jaeken, B. J. H. M. Poorthuis

Journal:

Journal of Inherited Metabolic Disease

Year:

1997

Language:

english

File:

PDF, 6 KB

english, 1997

60

Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands

B. Weber, J.J.P. van de Kamp, W.J. Kleijer, X.-H. Guo, L. Blanch, O.P. van Diggelen, R. Wevers, B.J.H.M. Poorthuis, J.J. Hopwood

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 103 KB

english, 1998

61

Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β-oxidation defects

W. Onkenhout, V. Venizelos, H.R. Scholte, J.B.C. de Klerk, B.J.H.M. Poorthuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 82 KB

english, 2001

62

Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis

S.M. Jansen, J.E.M. Groener, W. Bax, B.J.H.M. Poorthuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

63

Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography–mass spectrometry

Bruggink, Cees, Poorthuis, Ben J. H. M., Deelder, André M., Wuhrer, Manfred

Journal:

Analytical and Bioanalytical Chemistry

Year:

2012

Language:

english

File:

PDF, 651 KB

english, 2012

64

Bonded hydrogen and hydrogen bonding in reciprocal space. Simulation of diffraction by a water molecule and dimer

G.H.A. Poorthuis, D. Feil

Journal:

Journal of Molecular Structure: THEOCHEM

Year:

1994

Language:

english

File:

PDF, 910 KB

english, 1994

65

A study of the reaction p + p → p + p + X at ISR energies

J.C.M. Armitage, P. Benz, G.J. Bobbink, F.C. Erné, P. Kooijman, F.K. Loebinger, A.A. Macbeth, H.E. Montgomery, P.G. Murphy, J.J.M. Poorthuis, A. Rudge, J.C. Sens, P. Strolin, D. Stork, J. Timmer

Journal:

Physics Letters B

Year:

1979

Language:

english

File:

PDF, 369 KB

english, 1979

66

Nicotinic actions on neuronal networks for cognition: General principles and long-term consequences

Rogier B. Poorthuis, Natalia A. Goriounova, Jonathan J. Couey, Huibert D. Mansvelder

Journal:

Biochemical Pharmacology

Year:

2009

Language:

english

File:

PDF, 216 KB

english, 2009

67

Mannose phosphorylation in health and disease

Katrin Kollmann, Sandra Pohl, Katrin Marschner, Marisa Encarnação, Imme Sakwa, Stephan Tiede, Ben J. Poorthuis, Torben Lübke, Sven Müller-Loennies, Stephan Storch, Thomas Braulke

Journal:

European Journal of Cell Biology

Year:

2010

Language:

english

File:

PDF, 536 KB

english, 2010

68

Gene expression profile and histopathology of experimental bronchopulmonary dysplasia induced by prolonged oxidative stress

Gerry T.M Wagenaar, Simone A.J ter Horst, Margôt A van Gastelen, Lara M Leijser, Thais Mauad, Pieter A van der Velden, Emile de Heer, Pieter S Hiemstra, Ben J.H.M Poorthuis, Frans J Walther

Journal:

Free Radical Biology and Medicine

Year:

2004

Language:

english

File:

PDF, 1.54 MB

english, 2004

69

Phospholipase A2 is present in meconium and inhibits the activity of pulmonary surfactant: an in vitro study

AJJ Schrama, AJ de Beaufort, YRM Sukul, SM Jansen, BJHM Poorthuis, HM Berger

Journal:

Acta Paediatrica

Year:

2001

Language:

english

File:

PDF, 115 KB

english, 2001

70

Phenotypic error threshold; additivity and epistasis in RNA evolution

Nobuto Takeuchi, Petrus H Poorthuis, Paulien Hogeweg

Journal:

BMC Evolutionary Biology

Year:

2005

Language:

english

File:

PDF, 335 KB

english, 2005

71

Transbilayer Distribution and Mobility of Phosphatidylcholine in Intact Erythrocyte Membranes : A Study with Phosphatidylcholine Exchange Protein

Gerrit VAN MEER, Ben J. H. M. POORTHUIS, Karel W. A. WIRTZ, Jos A. F. OP DEN KAMP, Laurens L. M. VAN DEENEN

Journal:

Year:

1980

Language:

english

File:

PDF, 552 KB

english, 1980

72

Phospholipid transfer activities in morris hepatomas and the specific contribution of the phosphatidylcholine exchange protein

Ben J.H.M. Poorthuis, Theo P. Van der Krift, Tom Teerlink, Rob Akeroyd, Karl Y. Hostetler, Karel W.A. Wirtz

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

1980

Language:

english

File:

PDF, 687 KB

english, 1980

73

Studies on nucleotide diphosphate diacylglycerol specificity of acidic phospholipid biosynthesis in rat liver subcellular fractions

B.J.H.M. Poorthuis, Karl Y. Hostetler

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1976

Language:

english

File:

PDF, 692 KB

english, 1976

74

A new high-yield procedure for the purification of the non-specific phospholipid transfer protein from rat liver

Ben J.H.M. Poorthuis, Jan F.C. Glatz, Robert Akeroyd, Karel W.A. Wirtz

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1981

Language:

english

File:

PDF, 684 KB

english, 1981

75

Measurement of phosphatidylcholine transfer protein in rat liver and hepatomas by radioimmunoassay

Tom Teerlink, Ben J.H.M. Poorthuis, Theo P. Van Der Krift, Karel W.A. Wirtz

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1981

Language:

english

File:

PDF, 794 KB

english, 1981

76

Increased cholesterol esterification in rat liver microsomes by purified non-specific phospholipid transfer protein

Ben J.H.M. Poorthuis, Karel W.A. Wirtz

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1982

Language:

english

File:

PDF, 650 KB

english, 1982

77

Pathology of the peripheral nerve in the twitcher mouse following bone marrow transplantation

Akira Kondo, Peter M. Hoogerbrugge, Kinuko Suzuki, Ben J.H.M. Poorthuis, Dirk W. Van Bekkum, Kunihiko Suzuki

Journal:

Year:

1988

Language:

english

File:

PDF, 985 KB

english, 1988

78

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

O.P. van Diggelen, H. Zhao, W.J. Kleijer, H.C. Janse, B.J.H.M. Poorthuis, J. van Pelt, J.P. Kamerling, H. Galjaard

Journal:

Clinica Chimica Acta

Year:

1990

Language:

english

File:

PDF, 654 KB

english, 1990

79

Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred

J.D. Macfarlane, B.J.H.M. Poorthuis, R.A. Mulivor, A.M. Caswell

Journal:

Clinica Chimica Acta

Year:

1991

Language:

english

File:

PDF, 521 KB

english, 1991

80

Determination of acylcarnitines in urine of patients with inborn errors of metabolism using high-performance liquid chromatography after derivatization with 4′-bromophenacylbromide

Ben J.H.M. Poorthuis, Tamara Jille-Vlčková, Willem Onkenhout

Journal:

Clinica Chimica Acta

Year:

1993

Language:

english

File:

PDF, 639 KB

english, 1993

81

Measurement of coherent elastic and inelastic deuteron-proton scattering at s = 2800 GeV2

J.C.M. Armitage, P. Benz, G.J. Bobbink, F.C. Erné, P. Kooijman, F.K. Loebinger, A.A. Macbeth, H.E. Montgomery, P.G. Murphy, J.J.M. Poorthuis, A. Rudge, J.C. Sens, D. Stork, J. Timmer

Journal:

Nuclear Physics B

Year:

1978

Language:

english

File:

PDF, 707 KB

english, 1978

82

Search for new long-lived particles with masses in the range 1.4 to 3.0 GeV, at the CERN ISR

J.C.M. Armitage, P. Benz, G.J. Bobbink, F.C. Erné, P. Kooijman, F.K. Loebinger, A.A. Macbeth, H.E. Montgomery, P.G. Murphy, J.J.M. Poorthuis, L. Rabou, A. Rudge, J.C. Sens, D. Stork, J. Timmer

Journal:

Nuclear Physics B

Year:

1979

Language:

english

File:

PDF, 943 KB

english, 1979

83

Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

S.M. Rombach, N. Dekker, M.G. Bouwman, G.E. Linthorst, A.H. Zwinderman, F.A. Wijburg, S. Kuiper, M.A. vd Bergh Weerman, J.E.M. Groener, B.J. Poorthuis, C.E.M. Hollak, J.M.F.G. Aerts

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2010

Language:

english

File:

PDF, 877 KB

english, 2010

84

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

Mariëlle J. van Breemen, Saskia M. Rombach, Nick Dekker, Ben J. Poorthuis, Gabor E. Linthorst, Aeilko H. Zwinderman, Frank Breunig, Christoph Wanner, Johannes M. Aerts, Carla E. Hollak

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2011

Language:

english

File:

PDF, 310 KB

english, 2011

85

Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention

J.E.M. Groener, B.J.H.M. Poorthuis, S. Kuiper, C.E.M. Hollak, J.M.F.G. Aerts

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

2008

Language:

english

File:

PDF, 579 KB

english, 2008

86

Prosocial tendencies predict friendship quality, but not for popular children

Astrid M.G. Poorthuis, Sander Thomaes, Jaap J.A. Denissen, Marcel A.G. van Aken, Bram Orobio de Castro

Journal:

Journal of Experimental Child Psychology

Year:

2012

Language:

english

File:

PDF, 241 KB

english, 2012

87

Distributed Network Actions by Nicotine Increase the Threshold for Spike-Timing-Dependent Plasticity in Prefrontal Cortex

Jonathan J. Couey, Rhiannon M. Meredith, Sabine Spijker, Rogier B. Poorthuis, August B. Smit, Arjen B. Brussaard, Huibert D. Mansvelder

Journal:

Year:

2007

Language:

english

File:

PDF, 1.52 MB

english, 2007

88

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

G.J.G. Ruijter, M.J. Valstar, J.M. van de Kamp, R.M. van der Helm, S. Durand, O.P. van Diggelen, R.A. Wevers, B.J. Poorthuis, A.V. Pshezhetsky, F.A. Wijburg

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 187 KB

english, 2008

89

Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts

S.M. Jansen, J.E.M. Groener, B.J.H.M. Poorthuis

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

1999

Language:

english

File:

PDF, 212 KB

english, 1999

90

Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia

P.D. Maaswinkel-Mooij, C. Van den Bogert, H.R. Scholte, W. Onkenhout, P. Brederoo, B.J.H.M. Poorthuis

Journal:

The Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 1.14 MB

english, 1996

91

Fabry disease: classic phenotype in alarge family affected by a novel mutation (A292T) in the α-galactosidase a gene

C. Spanu, R.H. Lekanne Deprez, B.J. Poorthuis, C. Nita, C. Drugan, C. Craciun, I. Kacso, V. Todea, V. Tibre, S. Pops

Journal:

Clinical Therapeutics

Year:

2007

Language:

english

File:

PDF, 129 KB

english, 2007

92

Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype

H.R. Scholte, R.N.A. Van Coster, P.C. de Jonge, B.J.H.M. Poorthuis, J.A.L. Jeneson, B.S. Andresen, N. Gregersen, J.B.C. de Klerk, H.F.M. Busch

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 85 KB

english, 1999

93

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Brage Storstein Andresen, Simon Olpin, Ben J.H.M. Poorthuis, Hans R. Scholte, Christine Vianey-Saban, Ronald Wanders, Lodewijk Ijlst, Andrew Morris, Morteza Pourfarzam, Kim Bartlett, E. Regula Baumgar

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 234 KB

english, 1999

94

Layer-Specific Modulation of the Prefrontal Cortex by Nicotinic Acetylcholine Receptors

Poorthuis, R. B., Bloem, B., Schak, B., Wester, J., de Kock, C. P. J., Mansvelder, H. D.

Journal:

Cerebral Cortex

Year:

2013

Language:

english

File:

PDF, 4.75 MB

english, 2013

95

S.20.02 Alpha7 nicotinic receptors and synaptic plasticity

H.D. Mansvelder, R.B. Poorthuis, B. Bloem, K. Guillem

Journal:

European Neuropsychopharmacology

Year:

2010

Language:

english

File:

PDF, 44 KB

english, 2010

96

Enzyme Activity for Determination of Presence of Fabry Disease in Women Results in 40% False-Negative Results

Gabor E. Linthorst, Ben J.H.M. Poorthuis, Carla E.M. Hollak

Journal:

Journal of the American College of Cardiology

Year:

2008

Language:

english

File:

PDF, 49 KB

english, 2008

97

An infant with epilepsy: adenylosuccicase deficiency

P.D. Maaswinkel-Mooij, L.A.E.M. Laan, O.F. Brouwer, B.J.H.M. Poorthuis

Journal:

Clinical Neurology and Neurosurgery

Year:

1997

Language:

english

File:

PDF, 95 KB

english, 1997

98

Pigment production in cultured human melanocytes influences the glutathione levels in the cell

Smit, Nico, Pavel, Stan, Terlouw, Koen, Poorthuis, Ben, Kolb, Ria, Lenties, Eef

Journal:

Journal of Dermatological Science

Year:

1998

Language:

english

File:

PDF, 172 KB

english, 1998

99

Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry

Gold, H., Mirzaian, M., Dekker, N., Joao Ferraz, M., Lugtenburg, J., Codee, J. D. C., van der Marel, G. A., Overkleeft, H. S., Linthorst, G. E., Groener, J. E. M., Aerts, J. M., Poorthuis, B. J. H. M.

Journal:

Clinical Chemistry

Year:

2013

Language:

english

File:

PDF, 504 KB

english, 2013

100

Layer-Specific Interference with Cholinergic Signaling in the Prefrontal Cortex by Smoking Concentrations of Nicotine

Poorthuis, R. B., Bloem, B., Verhoog, M. B., Mansvelder, H. D.

Journal:

Journal of Neuroscience

Year:

2013

Language:

english

File:

PDF, 2.45 MB

english, 2013