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51

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay

P. T. Clayton, S. Eckhardt, J. Wilson, C. M. Hall, Y. Yousuf, R. J. A. Wanders, R. B. H. Schutgens

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 954 KB

english, 1994

52

Peroxisomal functions in Mulibrey nanism

R. B. H. Schutgens, M. Ryynänen, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 67 KB

english, 1994

53

Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder

R. J. A. Wanders, C. Dekker, V. A. P. Hovarth, R. B. H. Schutgens, J. M. Tager, P. Laer, D. Lecoutere

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 203 KB

english, 1994

54

A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts

R. B. H. Schutgens, R. J. A. Wanders, C. Jakobs, M. Arslan-Kirchner, K. Miller, P. Wieacker, D. Hunnemann, P. Hurter, M. Schutz

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 208 KB

english, 1994

55

l-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase

P. G. Barth, G. F. Hoffmann, J. Jaeken, R. J. A. Wanders, M. Duran, G. A. Jansen, C. Jakobs, W. Lehnert, F. Hanefeld, J. Valk, R. B. H. Schutgens, F. K. Trefz, H. -P. Hartung, N. A. Chamoles, Z. Sfael

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 732 KB

english, 1993

56

Chondrodysplasia punctata with a mild clinical course

J. M. Nuoffer, J. P. Pfammatter, A. Spahr, H. Toplak, R. J. A. Wanders, R. B. H. Schutgens, U. N. Wiesmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 699 KB

english, 1994

57

Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data

D. De Craemer, M. J. Zweens, S. Lyonnet, R. J. A. Wanders, B. T. Poll-The, R. B. H. Schutgens, J. J. J. Waelkens, J. M. Saudubray, F. Roels

Journal:

Virchows Archiv

Year:

1991

Language:

english

File:

PDF, 551 KB

english, 1991

58

3-Ketothiolase deficiency: Heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients

H. Nagasawa, S. Yamaguchi, T. Orii, R. B. H. Schutgens, L. Sweetman, T. Hashimoto

Journal:

Journal of Inherited Metabolic Disease

Year:

1989

Language:

english

File:

PDF, 409 KB

english, 1989

59

Prenatal and perinatal diagnosis of peroxisomal disorders

R. B. H. Schutgens, G. Schrakamp, R. J. A. Wanders, H. S. A. Heymans, J. M. Tager, H. van den Bosch

Journal:

Journal of Inherited Metabolic Disease

Year:

1989

Language:

english

File:

PDF, 1.46 MB

english, 1989

60

The inborn errors of peroxisomal β-oxidation: A review

R. J. A. Wanders, C. W. T. van Roermund, R. B. H. Schutgens, P. G. Barth, H. S. A. Heymans, H. van den Bosch, J. M. Tager

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 2.56 MB

english, 1990

61

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts

P. G. Barth, C. Van den Bogert, P. A. Bolhuis, H. R. Scholte, A. H. van Gennip, R. B. H. Schutgens, A. G. Ketel

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 276 KB

english, 1996

62

Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester

R. G. F. Gray, A. Green, R. B. H. Schutgens, R. J. A. Wanders, P. A. Farndon, C. R. Kennedy

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 212 KB

english, 1990

63

Di- and trihydroxycholestanoic acidaemia with hepatic failure

H. Przyrembel, R. J. A. Wanders, C. W. T. van Roermund, R. B. H. Schutgens, G. P. Mannaerts, M. Casteels

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 296 KB

english, 1990

64

First prenatal diagnosis of acyl-CoA oxidase deficiency

R. J. A. Wanders, A. Schelen, N. Feller, R. B. H. Schutgens, F. Stellaard, C. Jakobs, B. Mitulla, G. Seidlitz

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 289 KB

english, 1990

65

A new peroxisomal disorder: Di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency

E. Christensen, J. Van Eldere, N. J. Brandt, R. B. H. Schutgens, R. J. A. Wanders, H. J. Eyssen

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 284 KB

english, 1990

66

A bifunctional protein with deficient enzymic activity: Identification of a new peroxisomal disorder using novel methods to measure the peroxisomal β-oxidation enzyme activities

R. J. A. Wanders, C. W. T. van Roermund, A. Schelen, R. B. H. Schutgens, J. M. Tager, J. B. P. Stephenson, P. T. Clayton

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 357 KB

english, 1990

67

Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction

B. T. Poll-The, J. M. Saudubray, H. Ogier, R. B. H. Schutgens, R. J. A. Wanders, G. Schrakamp, H. van den Bosch, J. M. F. Trijbels, A. Poulos, H. W. Moser, J. van Eldere, H. J. Eyssen

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 457 KB

english, 1986

68

Non-ketotic hyperglycinaemia due to a deficiency of T-protein in the glycine cleavage system in liver and brain

R. B. H. Schutgens, J. L. Ket, K. Hayasaka, K. Tada

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 547 KB

english, 1986

69

X-linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defect

R. J. A. Wanders, C. W. T. van Roermund, W. Lageweg, B. S. Jakobs, R. B. H. Schutgens, A. A. Nijenhuis, J. M. Tager

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 917 KB

english, 1992

70

Impaired cholesterol side chain cleavage activity in liver from patients with the cerebro-hepato-renal (Zellweger) syndrome in relation to the accumulation of Di- and trihydroxycoprostanoic acid in serum

R. J. A. Wanders, H. S. A. Heymans, R. B. H. Schutgens, J. van Eldere, H. J. Eyssen

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 277 KB

english, 1986

71

Deficiency of dihydroxyacetonephosphate acyltransferase and catalase-containing particles in patients with infantile refsum's disease

R. J. A. Wanders, R. B. H. Schutgens, G. Schrakamp, H. van den Bosch, J. M. Tager, B. T. Poll-Thé, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 290 KB

english, 1986

72

Pre- and postnatal diagnosis of the cerebrohepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence of absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblasts

R. J. A. Wanders, G. Schrakamp, H. van den Bosch, J. M. Tager, H. W. Moser, A. E. Moser, P. Aubourg, W. J. Kleijer, R. B. H. Schutgens

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 254 KB

english, 1986

73

Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata

H. S. A. Heymans, J. W. E. Oorthuys, G. Nelck, R. J. A. Wanders, K. P. Dingemans, R. B. H. Schutgens

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 229 KB

english, 1986

74

A sibship with a mild variant of Zellweger syndrome

P. G. Barth, R. B. H. Schutgens, R. J. A. Wanders, H. S. A. Heymans, A. E. Moser, H. W. Moser, E. M. Bleeker-Wagemakers, K. Jansonius-Schultheiss, M. Derix, G. F. Nelck

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 934 KB

english, 1987

75

Rhizomelic chondrodysplasia punctata — A new clinical variant

R. G. F. Gray, A. Green, S. Chapman, C. McKeown, R. B. H. Schutgens, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 156 KB

english, 1992

76

Zellweger syndrome in a preterm, small for gestational age infant

J. F. Samsom, C. Jakobs, J. van de Klei-van Moorsel, L. M. E. Smit, R. B. H. Schutgens, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 1.33 MB

english, 1992

77

Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method

R. J. A. Wanders, R. B. H. Schutgens, B. H. M. Zoeters

Journal:

Journal of Inherited Metabolic Disease

Year:

1988

Language:

english

File:

PDF, 98 KB

english, 1988

78

Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples

J. L. Johnson, K. V. Rajagopalan, J. T. Lanman, R. B. H. Schutgens, A. H. van Gennip, P. Sorensen, D. A. Applegarth

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 525 KB

english, 1991

79

Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: Implications for postnatal detection of the disease

R. J. A. Wanders, Y. R. Purvis, H. S. A. Heymans, J. A. J. M. Bakkeren, G. G. Parmentier, J. van Eldere, H. Eyssen, H. van den Bosch, J. M. Tager, R. B. H. Schutgens

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 625 KB

english, 1986

80

Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: Aberrant subcellular localization in Zellweger syndrome

C. W. T. van Roermund, S. Brul, J. M. Tager, R. B. H. Schutgens, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 1.10 MB

english, 1991

81

X-linked adrenoleukodystrophy: Identification of the primary defect at the level of a deficient peroxisomal very long chain fatty acyl-CoA synthetase using a newly developed method for the isolation of peroxisomes from skin fibroblasts

R. J. A. Wanders, C. W. T. van Roermund, M. J. A. van Wijland, R. B. H. Schutgens, A. W. Schram, J. M. Tager, H. van den Bosch, C. Schalkwijk

Journal:

Journal of Inherited Metabolic Disease

Year:

1988

Language:

english

File:

PDF, 408 KB

english, 1988

82

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

83

Bile acid analyses in “pseudo-Zellweger” syndrome; clues to the defect in peroxisomal β-oxidation

P. T. Clayton, B. D. Lake, M. Hjelm, J. B. P. Stephenson, G. T. N. Besley, R. J. A. Wanders, A. W. Schram, J. M. Tager, R. B. H. Schutgens, A. M. Lawson

Journal:

Journal of Inherited Metabolic Disease

Year:

1988

Language:

english

File:

PDF, 273 KB

english, 1988

84

Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia

R. J. A. Wanders, C. W. T. van Roermund, M. J. A. van Wijland, R. B. H. Schutgens, J. M. Tager, H. van den Bosch, G. H. Thomas

Journal:

Journal of Inherited Metabolic Disease

Year:

1988

Language:

english

File:

PDF, 295 KB

english, 1988

85

Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: Correlation with pyridoxine responsiveness

R. J. A. Wanders, C. W. T. van Roermund, S. Jurriaans, R. B. H. Schutgens, J. M. Tager, H. van den Bosch, E. D. Wolff, H. Przyrembel, R. Berger, F. G. Schaaphok, W. Reitsma, W. H. J. van Luyk

Journal:

Journal of Inherited Metabolic Disease

Year:

1988

Language:

english

File:

PDF, 252 KB

english, 1988

86

Mild variant of argininosuccinic aciduria

R. B. H. Schutgens, F. A. Beemer, W. H. H. Tegelaers, W. P. de Groot

Journal:

Journal of Inherited Metabolic Disease

Year:

1979

Language:

english

File:

PDF, 224 KB

english, 1979

87

Prenatal diagnosis and confirmation of Infantile Refsum's disease

B. T. Poll-The, J. M. Saudubray, F. Rocchiccioli, J. Scotto, F. Roels, J. Boue, H. Ogier, Y. Dumez, R. J. A. Wanders, R. B. H. Schutgens, A. W. Schram, J. M. Tager

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 277 KB

english, 1987

88

Peroxisomal fatty acid β-oxidation in human skin fibroblasts: X-linked adrenoleukodystrophy, a peroxisomal very long chain fatty acyl-CoA synthetase deficiency?

R. J. A. Wanders, C. W. T. Van Roermund, M. J. A. Van Wijland, J. Heikoop, A. Van den Put, P. Bentlage, E. Meijboom, J. M. Tager, A. W. Schram, H. Van den Bosch, R. B. H. Schutgens

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 364 KB

english, 1987

89

Cultured human muscle cells from controls and a Zellweger patient: Study on peroxisomes and peroxisomal functions

R. J. A. Wanders, P. G. Barth, R. B. H. Schutgens, C. W. T. van Roemund, R. Ofman, J. M. Tager, R. Wolterman, P. A. Bolhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 281 KB

english, 1987

90

Generalized loss of peroxisomal functions in neonatal adrenoleukodystrophy: Implications for Pre- and postnatal detection and relationship to X-linked adrenoleukodystrophy

R. J. A. Wanders, R. B. H. Schutgens, G. Schrakamp, H. van den Bosch, J. M. Tager, A. B. Moser, H. W. Moser

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 285 KB

english, 1987

91

A genetic disorder due to the deficiency of the peroxisomal β-oxidation enzyme 3-oxoacyl-CoA thiolase

A. W. Schram, S. Goldfischer, R. J. A. Wanders, E. M. Brouwer-Kelder, C. W. T. van Roermund, J. Collins, T. Hashimoto, H. S. A. Heymans, R. B. H. Schutgens, H. van den Bosch, J. M. Tager

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 221 KB

english, 1987

92

Peroxisomal matrix enzymes in zellweger syndrome: Activity and subcellular localization in liver

R. J. A. Wanders, R. B. H. Schutgens, J. M. Tager

Journal:

Journal of Inherited Metabolic Disease

Year:

1985

Language:

english

File:

PDF, 221 KB

english, 1985

93

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis

R. B. H. Schutgens, H. S. A. Heymans, R. J. A. Wanders, H. van den Bosch, G. Schrakamp

Journal:

Journal of Inherited Metabolic Disease

Year:

1985

Language:

english

File:

PDF, 251 KB

english, 1985

94

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

B. T. Poll-The, P. Maroteaux, C. Narcy, P. Quetin, M. Guesnu, R. J. A. Wanders, R. B. H. Schutgens, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 227 KB

english, 1991

95

Bile acids in amniotic fluid: Promising metabolites for the prenatal diagnosis of peroxisomal disorders

F. Stellaard, W. J. Kleijer, R. J. A. Wanders, R. B. H. Schutgens, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 311 KB

english, 1991

96

Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency

H. J. ten Brink, R. J. A. Wanders, F. Stellaard, R. B. H. Schutgens, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 254 KB

english, 1991

97

Di- and trihydroxycholestanaemia in twin sisters

R. J. A. Wanders, C. W. T. van Roermund, A. Schelen, R. B. H. Schutgens, J. Zeman, V. Kozich, J. Hyanek, M. Casteels, G. P. Mannaerts

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 258 KB

english, 1991

98

Zellweger syndrome: Biochemical procedures in diagnosis, prevention and treatment

R. B. H. Schutgens, R. J. A. Wanders, H. S. A. Heymans, A. W. Schram, J. M. Tager, G. Schrakamp, H. van den Bosch

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 1.05 MB

english, 1987

99

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

100

Clinical recognition of patients affected by a peroxisomal disorder: A retrospective study in 40 patients

A. C. Theil, R. B. H. Schutgens, R. J. A. Wanders, H. S. A. Heymans

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 395 KB

english, 1992