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51

Respiratory chain function in Leber's hereditary optic neuropathy: Lack of correlation with clinical disease

J. C. Cornelissen, R. J. A. Wanders, P. A. Bolhuis, E. Bleeker-Wagemakers, R-J. Oostra, F. A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 189 KB

english, 1993

52

Liver transplantation in tyrosinaemia type I: the Groningen experience

F. A. Wijburg, W. Ch. C. Reitsma, M. J. H. Slooff, F. J. Spronsen, H. A. Koetse, D. J. Reijngoud, G. P. A. Smit, R. Berger, C. M. A. Bijleveld

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 223 KB

english, 1995

53

Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation

F. J. Spronsen, G. P. A. Smit, F. A. Wijburg, Y. Thomasse, G. Visser, H. S. A. Heymans

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 248 KB

english, 1995

54

Mitochondrial oxidative phosphorylation in digitonin-permeabilized chorionic villus fibroblasts: A new method with potential for prenatal diagnosis

R. J. A. Wanders, J. P. N. Ruiter, F. A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 148 KB

english, 1994

55

Foreword

Bert Oord, Jan Kuijpers, Max Kuperus, A. O. Benz, J. C. Brown, G. Einaudi, M. Kuperus, M. A. Raadu, G. Trottet, G. H. J. Oord, L. Vlahos, V. V. Zheleznyakov, Marion Wijburg, Lyndsay Fletcher, Martin V

Journal:

Space Science Reviews

Year:

1994

Language:

english

File:

PDF, 128 KB

english, 1994

56

Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts

F. A. Wijburg, N. Feller, W. Ruitenbeek, J. M. F. Trijbels, R. C. A. Sengers, H. R. Scholte, H. Przyrembel, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 283 KB

english, 1990

57

Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family

H. D. Bakker, C. van den Bogert, H. R. Scholte, R. Zwart, F. A. Wijburg, J. N. Spelbrink

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 254 KB

english, 1996

58

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells

R. J. A. Wanders, J. P. N. Ruiter, F. A. Wijburg, J. Zeman, P. Klement, J. Houstek

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 310 KB

english, 1996

59

Muscle cell cultures in Menkes' disease: Copper accumulation in myotubes

G. J. van den Berg, J. J. Kroon, F. A. Wijburg, K. M. C. Sinjorgo, N. H. Herzberg, P. A. Bolhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 426 KB

english, 1990

60

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose

R. J. A. Wanders, F. A. Wijburg, J. Ruiter, J. M. F. Trijbels, W. Ruitenbeek, R. C. A. Sengers, J. A. J. M. Bakkeren, N. Feller

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 640 KB

english, 1992

61

Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of p-protein of the glycine cleavage complex

F. A. Wijburg, C. J. de Groot, R. B. H. Schutgens, P. G. Barth, K. Tada

Journal:

Journal of Inherited Metabolic Disease

Year:

1988

Language:

english

File:

PDF, 213 KB

english, 1988

62

Restoration of NADH-oxidation in complex I and complex III deficient fibroblasts by menadione

F. A. Wijburg, C. J. de Groot, N. Feller, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 278 KB

english, 1991

63

NADH:Q1oxidoreductase deficiency without lactic acidosis in a patient with leigh syndrome: Implications for the diagnosis of inborn errors of the respiratory chain

F. A. Wijburg, R. J. A. Wanders, E. M. van Lie Peters, G. D. Vos, H. G. Loggers, P. A. Bolhuis, N. H. Herzberg, W. Ruitenbeek, A. van Wilsem, R. ten Houten, P. G. Barth

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 305 KB

english, 1991

64

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation

F. A. Wijburg, D. S. Rosenblatt, G. D. Vos, J. W. E. Oorthuys, L. G. F. M. van't Hek, B. J. H. M. Poorthuis, M. K. Sanders, R. B. H. Schutgens

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 488 KB

english, 1992

65

Severe methaemoglobinaemia due to para-chloraniline intoxication in premature neonates

M. M. J. van der Vorst, P. Tamminga, F. A. Wijburg, R. B. H. Schutgens

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 116 KB

english, 1990

66

Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies

G. -C. Korenke, H. A. C. M. Bentlage, W. Ruitenbeek, R. C. A. Sengers, W. Sperl, J. M. F. Trijbels, F. J. M. Gabreels, F. A. Wijburg, V. Wiedermann, F. Hanefeld, U. Wendel, M. Reckmann, V. Griebel, H.

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 506 KB

english, 1990

67

Beta-mannosidosis and ethanolaminuria in a female patient

H. Wijburg, J. de Jong, R. Wevers, J. Bakkeren, F. Trijbels, R. Sengers

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 131 KB

english, 1992

68

Unusual clinical presentation in two boys with cytochromecoxidase deficiency

M. Hrebíček, J. Zeman, B. Petrák, V. Kožich, J. Hyánek, J. P. N. Ruiter, R. J. A. Wanders, F. A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 190 KB

english, 1992

69

Nieuwe inzichten in de ziekte van Niemann-Pick B

S. A. Fuchs, F. A. A. Langius, W. P. M. Rijnvos, P. G. J. Nikkels, F. A. Wijburg, G. Visser

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2004

File:

PDF, 154 KB

2004

70

Presenterende symptomen bij het syndroom van Hurler

C. M. L. Touw, M. Aldenhoven, P. M. van Hasselt, F. A. Wijburg, Q. Teunissen, A. T. van der Ploeg, M. F. Mulder, J. J. Boelens, T. J. de Koning

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2010

File:

PDF, 284 KB

2010

71

Lysosomale stapelingsziekten: van diagnose naar behandeling

A.T. van der Ploeg, F.A. Wijburg

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2011

Language:

dutch

File:

PDF, 67 KB

dutch, 2011

72

Anemie, trombocytopenie en hepatosplenomegalie: de ziekte van Gaucher

M.H. de Ru, F.A. Wijburg, J.M.F.G. Aerts, E.D.M. Post, C.E.M. Hollak

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2011

Language:

dutch

File:

PDF, 73 KB

dutch, 2011

73

Mucopolysacharidose type I: de ziekten van Hurler en van Scheie

Q.G.A. Teunissen, F.J. van Spronsen, G. Visser, M.M.M.G. Brands, A.T. van der Ploeg, F.A. Wijburg

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2011

Language:

dutch

File:

PDF, 115 KB

dutch, 2011

74

Langdurige neonatale icterus met later ataxie, verticale blikparese en progressieve mentale achteruitgang: de ziekte van Niemann-Pick type C

M.J. Valstar, T. Dahhan, B.P. Poorthuis, I. Snoeck, F.A. Wijburg

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2011

Language:

dutch

File:

PDF, 70 KB

dutch, 2011

75

Hevige pijnklachten aan handen en voeten bij koorts en huidafwijkingen: de ziekte van Fabry

M.G. Bouwman, S.M. Rombach, G.E. Linthorst, C.E.M. Hollak, J.M.F.G. Aerts, F.A. Wijburg

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2011

Language:

dutch

File:

PDF, 115 KB

dutch, 2011

76

Presenterende symptomen bij het syndroom van Hurler

C.M.L. Touw, M. Aldenhoven, P.M. van Hasselt, F.A. Wijburg, Q. Teunissen, A.T. van der Ploeg, M.F. Mulder, J.J. Boelens, T.J. de Koning

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2011

Language:

dutch

File:

PDF, 94 KB

dutch, 2011

77

Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids

S. M. Houten, M. Chegary, H. te Brinke, W. J. Wijnen, J. F. C. Glatz, J. J. F. P. Luiken, F. A. Wijburg, R. J. A. Wanders

Journal:

Cellular and Molecular Life Sciences

Year:

2009

Language:

english

File:

PDF, 1.40 MB

english, 2009

78

Hyaluronidase aspiration vs surgical excision of ganglion cysts: a randomized controlled trial

Gerhard F. Hajer, Marc RM. Scheltinga, Xander R. Bakker, Edwin R Wijburg

Journal:

European Journal of Plastic Surgery

Year:

2005

Language:

english

File:

PDF, 192 KB

english, 2005

79

Conventional Versus Invaginated Stripping of the Great Saphenous Vein: A Randomized, Double-Blind, Controlled Clinical Trial

Marc R. Scheltinga, Edwin R. Wijburg, Bram J. Keulers, Karin E. de Kroon

Journal:

World Journal of Surgery

Year:

2007

Language:

english

File:

PDF, 234 KB

english, 2007

80

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots

B. T. van Maldegem, H. R. Waterham, M. Duran, M. van der Vlies, C. S. van Woerden, L. L. Bobu, R. J. A. Wanders, F. A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 77 KB

english, 2005

81

Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease

J. Brinkman, F. A. Wijburg, C. E. Hollak, J. E. Groener, M. Verhoek, S. Scheij, J. Aten, R. G. Boot, J. M. Aerts

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 104 KB

english, 2005

82

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

Nadia A. Oey, Jos P. N. Ruiter, Tania Attié-Bitach, Lodewijk IJlst, Ronald J. A. Wanders, Frits A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 236 KB

english, 2006

83

Prolonged moderate-intensity exercise without and withL-carnitine supplementation in patients with MCAD deficiency

H. H. Huidekoper, J. Schneider, T. Westphal, F. M. Vaz, M. Duran, F. A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 268 KB

english, 2006

84

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria

A. M. Bosch, W. Tybout, F. J. van Spronsen, H. W. de Valk, F. A. Wijburg, M. A. Grootenhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 221 KB

english, 2007

85

Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy

J. Cox-Brinkman, M. J. C. Smeulders, C. E. M. Hollak, F. A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 221 KB

english, 2007

86

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme

A. E. ten Hoedt, A. A. van Kempen, A. Boelen, M. Duran, E. A. Kemper-Proper, M. J. W. Oey-Spauwen, F. A. Wijburg, A. M. Bosch

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 136 KB

english, 2007

87

Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe

J. Cox-Brinkman, R. G. M. Timmermans, F. A. Wijburg, W. E. Donker, A. T. van de Ploeg, J. M. F. G. Aerts, C. E. M. Hollak

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 203 KB

english, 2007

88

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

J. Cox-Brinkman, M. J. van Breemen, B. T. van Maldegem, L. Bour, W. E. Donker, C. E. M. Hollak, F. A. Wijburg, J. M. F. G. Aerts

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 344 KB

english, 2008

89

Sanfilippo syndrome: A mini-review

M. J. Valstar, G. J. G. Ruijter, O. P. van Diggelen, B. J. Poorthuis, F. A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 192 KB

english, 2008

90

Remarkable differences: the course of life of young adults with galactosaemia and PKU

A. M. Bosch, H. Maurice-Stam, F. A. Wijburg, M. A. Grootenhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 106 KB

english, 2009

91

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

Bianca T. van Maldegem, Ronald J. A. Wanders, Frits A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 127 KB

english, 2010

92

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency

Hidde H. Huidekoper, Gepke Visser, Mariëtte T. Ackermans, Hans P. Sauerwein, Frits A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

93

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

Marlies J. Valstar, Hennie T. Bruggenwirth, Renske Olmer, Ron A. Wevers, Frans W. Verheijen, Ben J. Poorthuis, Dicky J. Halley, Frits A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 182 KB

english, 2010

94

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

Ute Spiekerkoetter, Jean Bastin, Melanie Gillingham, Andrew Morris, Frits Wijburg, Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

95

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Annet M. Bosch, Nico G. G. M. Abeling, Lodewijk IJlst, Hennie Knoester, W. Ludo van der Pol, Alida E. M. Stroomer, Ronald J. Wanders, Gepke Visser, Frits A. Wijburg, Marinus Duran, Hans R. Waterham

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 114 KB

english, 2011

96

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients

Gepke Visser, Wilco de Jager, Liesbeth P. Verhagen, G. Peter A. Smit, Frits A. Wijburg, Berent J. Prakken, Paul J. Coffer, Miranda Buitenhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 513 KB

english, 2012

97

Anemie, trombocytopenie en hepatosplenomegalie: de ziekte van Gaucher

M.H. de Ru, F.A. Wijburg, J.M.F.G. Aerts, E.D.M. Post, C.E.M. Hollak

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2010

File:

PDF, 149 KB

2010

98

Langdurige neonatale icterus met later ataxie,verticale blikparese en progressieve mentale achteruitgang: de ziekte van Niemann-Pick type C

M.J. Valstar, T. Dahhan, F.A. Wijburg, B.P. Poorthuis, I. Snoeck

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2010

Language:

dutch

File:

PDF, 75 KB

dutch, 2010

99

Hevige pijnklachten aan handen en voeten bij koorts en huidafwijkingen: de ziekte van Fabry

M.G. Bouwman, F.A. Wijburg, S.M. Rombach, G.E. Linthorst, C.E.M. Hollak, J.M.F.G. Aerts

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2010

Language:

dutch

File:

PDF, 580 KB

dutch, 2010

100

Mucopolysacharidose type I: de ziekten van Hurler en van Scheie

Q.G.A. Teunissen, F.A. Wijburg, F.J. van Spronsen, G. Visser, A.T van der Ploeg, M.M.M.G. Brands

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2010

Language:

dutch

File:

PDF, 322 KB

dutch, 2010

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