R. Schutgens

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Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase.

M. Durán, R. Schutgens, H. Heymans, 1979, The Journal of pediatrics.

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

R. Schutgens, M. S. van der Knaap, C. Oudejans, 2002, Human Genetics.

Erratum to: Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

R. Schutgens, M. S. van der Knaap, C. Oudejans, 2014, Human Genetics.

The metabolic and molecular bases of inherited disease, seventh edition—3-volume set Edited by Charles R. Scriver, Arthur L. Beaudet, William S. Sly, and David Valle. New York, McGraw-Hill, 1995, $285.84 (xxxvi + 4605 pages and 93-page index), ISBN 0-07909-826-6

R. Schutgens, 1995, Trends in Endocrinology & Metabolism.

Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome.

R. Westra, R. Wanders, R. Schutgens, 1987, Clinica chimica acta; international journal of clinical chemistry.

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

R. Wanders, R. Schutgens, H. Heymans, 1992, European Journal of Pediatrics.

Prenatal and perinatal diagnosis of peroxisomal disorders

R. Wanders, R. Schutgens, H. Heymans, 1989, Journal of Inherited Metabolic Disease.

Peroxisomal disorders: A newly recognised group of genetic diseases

R. Wanders, R. Schutgens, H. Heymans, 1986, European Journal of Pediatrics.

Postnatal diagnosis of peroxisomal disorders: a biochemical approach.

R. Wanders, R. Schutgens, P. Barth, 1993, Biochimie.

Effect of peroxisome proliferation on ether phospholipid biosynthesizing enzymes in rat liver.

R. Schutgens, J. Tager, H. van den Bosch, 1990, The International journal of biochemistry.

The Peroxisomal β-Oxidation Systems: Characteristics and (Dys) Functions in Man

R. Wanders, R. Schutgens, J. Tager, 1989 .

Peroxisomal Disorders: Biochemical Characteristics and Genetic Relationship Between the Different Diseases

R. Wanders, R. Schutgens, H. Heymans, 1987 .

R. Wanders, J. T. ten Cate, R. Schutgens, 1987, Blood.

The inborn errors of peroxisomal β-oxidation: A review

R. Wanders, R. Schutgens, H. Heymans, 1990, Journal of Inherited Metabolic Disease.

Ether lipid synthesis and its deficiency in peroxisomal disorders.

R. Wanders, R. Schutgens, H. van den Bosch, 1993, Biochimie.

Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal β-oxidation enzyme proteins

R. Wanders, R. Schutgens, B. Poll-The, 1986, European Journal of Pediatrics.

Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder

R. Wanders, R. Schutgens, J. Tager, 1994, Journal of Inherited Metabolic Disease.

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

O. Snead, R. Diaz-Arrastia, M. Grompe, 2001, Nature Genetics.

Delay in diagnosis of X-linked adrenoleukodystrophy

R. Schutgens, P. Barth, R. Wanders, 1993, Clinical Neurology and Neurosurgery.

Composition of LDL as determinant of its susceptibility to in vitro oxidation in patients with well‐controlled type 2 diabetes

R. Heine, S. Bakker, R. Schutgens, 2001, Diabetes/metabolism research and reviews.

Rapid enzymic micromethod for the quantitative determination of L(+)alanine in blood and urine.

R. Schutgens, F. Beemer, C. T. Awie, 1977, Clinica chimica acta; international journal of clinical chemistry.

Neonatal adrenoleukodystrophy Impaired plasmalogen biosynthesis and peroxisomal β-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts

H. Moser, R. Schutgens, R. Wanders, 1987, Journal of the Neurological Sciences.

Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells

R. Wanders, R. Schutgens, R. Ofman, 1995, Journal of Inherited Metabolic Disease.

Platelet-activating factor: mediator of the third pathway of platelet aggregation? A study in three patients with deficient platelet-activating factor synthesis.

J. T. ten Cate, P. Borst, R. Schutgens, 1987, The Journal of clinical investigation.

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

R. Wanders, R. Schutgens, G. Besley, 1988, Journal of Inherited Metabolic Disease.

IMPAIRED DEGRADATION OF LEUKOTRIENES IN PATIENTS WITH PEROXISOMAL DEFICIENCY DISORDERS

R. Wanders, R. Schutgens, E. Mayatepek, 1992, Pediatric Research.

Impaired degradation of leukotrienes in patients with peroxisome deficiency disorders.

W. Lehmann, R. Wanders, R. Schutgens, 1992 .

Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid

R. Schutgens, W. Kleijer, C. Jakobs, 1988, European Journal of Pediatrics.

Measurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblasts

S. Denis, R. Wanders, R. Schutgens, 1995, Journal of Inherited Metabolic Disease.

Variable Course of Canavan Disease in Two Boys with Early Infantile Aspartoacylase Deficiency

R. Schutgens, D. Scheffner, A. Moers, 1991, Developmental medicine and child neurology.

X-linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defect

R. Wanders, R. Schutgens, J. Tager, 1992, Journal of Inherited Metabolic Disease.

X-linked Adrenoleukodystrophy: Diagnosis an Enzy e Defect ioche ical

R. Wanders, R. Schutgens, J. Tager, 1992 .

3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.

R. Wanders, R. Schutgens, P. H. Zoeters, 1988, Clinica chimica acta; international journal of clinical chemistry.

A misdiagnosis of X‐linked adrenoleucodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids

R. Schutgens, R. Wanders, A. Green, 1995 .

Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata.

R. Wanders, R. Schutgens, R. Wanders, 1993, Clinical chemistry.

Clinical and biochemical characteristics of peroxisomal disorders: an update

R. Wanders, R. Schutgens, P. Barth, 2005, European Journal of Pediatrics.

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. Wanders, R. Schutgens, H. Heymans, 1986, Journal of Inherited Metabolic Disease.

Deficient cholesterol side chain oxidation in patients without peroxisomes (Zellweger syndrome): evidence for the involvement of peroxisomes in bile acid synthesis in man.

R. Wanders, R. Schutgens, H. Heymans, 1987, Clinica chimica acta; international journal of clinical chemistry.

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

R. Schutgens, A. Ketel, P. Barth, 1996, Journal of Inherited Metabolic Disease.

The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.

M. Durán, R. Schutgens, D. Ketting, 1982, Biomedical mass spectrometry.

Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test.

R. Wanders, R. Schutgens, J. Tager, 1985, Clinica chimica acta; international journal of clinical chemistry.

Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome.

R. Wanders, R. Schutgens, H. Heymans, 1985, Journal of lipid research.

Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

R. Wanders, R. Schutgens, H. Heymans, 1984, Biochemical and biophysical research communications.

Peroxisomal disorders: a review.

R. Wanders, R. Schutgens, P. Barth, 1995, Journal of neuropathology and experimental neurology.

Biochemistry of peroxisomes.

R. Wanders, R. Schutgens, R. Wanders, 1992, Annual review of biochemistry.

Deficiencies in Ether Glycerolipids and Their Biosynthesis in Inherited Peroxisomal Disorders

R. Wanders, R. Schutgens, H. Heymans, 1986 .

Identification of the Enzymic Defect in X-Linked Adrenoleukodystrophy: Oxidation of Very Long Chain Fatty Acids is Deficient Due to an Impaired Ability of Peroxisomes to Activate Very Long Chain Fatty Acids

R. Wanders, R. Schutgens, J. Tager, 1988 .

Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders.

R. Wanders, R. Schutgens, B. Poll-The, 1987, Clinica chimica acta; international journal of clinical chemistry.

Studies on the peroxisomal oxidation of palmitate and lignocerate in rat liver.

R. Wanders, R. Schutgens, C. V. van Roermund, 1987, Biochimica et biophysica acta.

Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.

M. Durán, R. Schutgens, H. A. Veder, 1978, Clinica chimica acta; international journal of clinical chemistry.

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts

R. Schutgens, H. A. Veder, B. Middleton, 1982, European Journal of Pediatrics.

Glucose metabolism in a child with 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency

R. Schutgens, C. Bachmann, B. François, 1981, Journal of Inherited Metabolic Disease.

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.

R. Wanders, M. Durán, R. Schutgens, 1990, Clinica chimica acta; international journal of clinical chemistry.

3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine.

M. Durán, R. Schutgens, H. Heymans, 1979, The Journal of pediatrics.

Neonatal Adrenoleukodystrophy

R. Schutgens, R. Wanders, P. Evrard, 2020, Definitions.

Zellweger syndrome: Biochemical procedures in diagnosis, prevention and treatment

R. Wanders, R. Schutgens, H. Heymans, 1987, Journal of Inherited Metabolic Disease.

Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency

R. Wanders, R. Schutgens, R. Wanders, 1994, European Journal of Pediatrics.

Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester

R. Wanders, R. Schutgens, P. Farndon, 1990, Journal of Inherited Metabolic Disease.

Primary hyperparathyroidism associated with pancytosis.

R. Wanders, R. Schutgens, H. Heymans, 1985 .

Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.

R. Wanders, R. Schutgens, H. Heymans, 1990, The Journal of clinical investigation.

Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.

R. Wanders, C. Schalkwijk, R. Schutgens, 1988, Journal of lipid research.

Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.

R. Wanders, R. Schutgens, T. Hashimoto, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.

R. Wanders, R. Schutgens, H. Heymans, 1984, Biochemical and biophysical research communications.

Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method.

R. Wanders, R. Schutgens, S. Jurriaans, 1990, Clinica chimica acta; international journal of clinical chemistry.

Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome.

R. Wanders, R. Schutgens, C. V. van Roermund, 1986, Clinica chimica acta; international journal of clinical chemistry.

L-pipecolate oxidase: a distinct peroxisomal enzyme in man.

R. Wanders, R. Schutgens, J. Tager, 1989, Biochemical and biophysical research communications.

Presence of peroxisomal membrane proteins in liver and fibroblasts from patients with the Zellweger syndrome and related disorders: evidence for the existence of peroxisomal ghosts.

E. Wiemer, R. Schutgens, S. Brul, 1989, European journal of cell biology.

An improved quantitative assay of galactose-1-phosphate uridyltransferase activity in erythrocytes based on the determination of glucose 1-phosphate generation.

R. Schutgens, W. J. Berntssen, L. Pool, 1978, Clinica chimica acta; international journal of clinical chemistry.

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction

R. Wanders, R. Schutgens, N. Abeling, 1993, Journal of Inherited Metabolic Disease.

Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.

R. Wanders, R. Schutgens, C. V. van Roermund, 1987, The Journal of clinical investigation.

A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids

R. Wanders, R. Schutgens, E. Christensen, 1997, Journal of Inherited Metabolic Disease.

A sibship with a mild variant of Zellweger syndrome

H. Moser, R. Wanders, R. Schutgens, 1987, Journal of Inherited Metabolic Disease.

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

H. Moser, R. Wanders, R. Schutgens, 1986, Journal of Inherited Metabolic Disease.

Infantile Refsum disease: an inherited peroxisomal disorder

R. Wanders, R. Schutgens, B. Poll-The, 1987, European Journal of Pediatrics.

Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia

R. Wanders, R. Schutgens, G. Thomas, 1988, Journal of Inherited Metabolic Disease.

Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group.

E. Wiemer, R. Wanders, R. Schutgens, 1991, Biochimica et biophysica acta.

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

R. Wanders, R. Schutgens, H. Heymans, 1988, The Journal of clinical investigation.

Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders.

R. Wanders, R. Schutgens, C. V. van Roermund, 1987, Clinica chimica acta; international journal of clinical chemistry.

Complementation Analysis of Peroxisomal Diseases by Somatic Cell Fusion

R. Wanders, R. Schutgens, A. Westerveld, 1987 .

Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome.

R. Wanders, R. Schutgens, C. V. van Roermund, 1988, Biochemical and Biophysical Research Communications - BBRC.

Chondrodysplasia punctata with a mild clinical course

R. Wanders, R. Schutgens, H. Toplak, 1994, Journal of Inherited Metabolic Disease.

Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids.

R. Wanders, R. Schutgens, C. V. van Roermund, 1988, Biochemical and biophysical research communications.

X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters.

R. Wanders, R. Schutgens, R. Wanders, 1987, Clinica chimica acta; international journal of clinical chemistry.

R. Wanders, R. Schutgens, H. Heymans, 1986, Journal of Inherited Metabolic Disease.

Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients

R. Wanders, R. Schutgens, R. Ofman, 1995, Journal of Inherited Metabolic Disease.

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.

Henk, R. Schutgens, H. Heymans, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Isolated defect of peroxisomal β-oxidation in a 16-year-old patient

R. Wanders, R. Schutgens, R. Santer, 1993, European Journal of Pediatrics.

Zellweger syndrome in a preterm, small for gestational age infant

R. Wanders, R. Schutgens, C. Jakobs, 1992, Journal of Inherited Metabolic Disease.

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

R. Wanders, R. Schutgens, P. Wieacker, 1994, Journal of Inherited Metabolic Disease.

The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts.

R. Wanders, R. Schutgens, H. Heymans, 1985, Biochimica et biophysica acta.

Prenatal diagnosis and confirmation of Infantile Refsum's disease

R. Wanders, R. Schutgens, B. Poll-The, 1987, Journal of Inherited Metabolic Disease.

A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells

R. Wanders, R. Schutgens, J. Tager, 1986, European Journal of Pediatrics.

Impaired plasmalogen metabolism in infantile Refsum's disease

R. Wanders, R. Schutgens, B. Poll-The, 1986, European Journal of Pediatrics.

Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.

R. Wanders, R. Schutgens, H. Heymans, 1986, The New England journal of medicine.

The cerebro‐hepato‐renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens

H. Moser, R. Wanders, R. Schutgens, 1985, Prenatal diagnosis.

Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome

R. Wanders, R. Schutgens, H. Heymans, 1985 .

Biochemical Studies in the Liver and Muscle of Patients with Zellweger Syndrome

J. Berden, R. Schutgens, L. Monnens, 1983, Pediatric Research.

Diagnosis of human peroxisomal disorders

R. Schutgens, G. Besley, F. Roels, 1995, Springer Netherlands.

Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata

R. Wanders, R. Schutgens, H. Heymans, 1986, Journal of Inherited Metabolic Disease.

Prenatal Diagnosis of Zellweger Syndrome by Direct Visualization of Peroxisomes in Chorionic Villus Fibroblasts by Immunofluorescence Microscopy

E. Wiemer, R. Wanders, R. Schutgens, 1989, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of inborn errors in peroxisomal β‐oxidation

R. Wanders, R. Schutgens, W. Kleijer, 1991 .

Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family.

G. Dacremont, R. Wanders, R. Schutgens, 1990, Archives of neurology.

R. Wanders, R. Schutgens, H. Heymans, 1987, Clinica chimica acta; international journal of clinical chemistry.

Biochemical Analysis in Peroxisomal Disorders

R. Wanders, R. Schutgens, H. Heymans, 1987 .

Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report

E. Boltshauser, R. Schutgens, R. Wanders, 1990, Journal of the Neurological Sciences.

Complementation Analysis of Peroxisomal Diseases: Kinetics of Assembly of Peroxisomes After Fusion of Complementary Cell Lines from Patients Deficient in Peroxisomes

E. Wiemer, R. Wanders, R. Schutgens, 1988 .

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata — a complementation study

R. Wanders, R. Schutgens, J. Tager, 1992, Human Genetics.

Kinetics of the assembly of peroxisomes after fusion of complementary cell lines from patients with the cerebro-hepato-renal (Zellweger) syndrome and related disorders.

E. Wiemer, R. Wanders, R. Schutgens, 1988, Biochemical and biophysical research communications.

Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.

R. Wanders, R. Schutgens, P. Barth, 1996, American journal of medical genetics.

Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome.

R. Wanders, R. Schutgens, C. Jakobs, 1990, Biochemical and biophysical research communications.

Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder

R. Wanders, R. Schutgens, J. Tager, 1992, Journal of Inherited Metabolic Disease.

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis

R. Wanders, M. Durán, R. Schutgens, 1992, Journal of Inherited Metabolic Disease.

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

R. Wanders, R. Schutgens, B. Poll-The, 1991, Journal of Inherited Metabolic Disease.

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

R. Wanders, R. Schutgens, E. Christensen, 1990, Journal of Inherited Metabolic Disease.

Genetic Heterogeneity in Inherited Disorders with a Generalized Impairment of Peroxisomal Functions: Visualization by Immunofluorescence Microscopy of Peroxisome Assembly After Somatic Cell Fusion of Complementary Cell Lines

E. Wiemer, R. Wanders, R. Schutgens, 1989 .

Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.

R. Wanders, R. Schutgens, J. Kirk, 1993, Archives of disease in childhood.

118: MULTIPLE PEROXISOMAL ENZYME DEFICIENCIES IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

R. Wanders, R. Schutgens, H. Heymans, 1988, Pediatric Research.

Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method.

R. Wanders, R. Schutgens, J. Tager, 1986, Biochimica et biophysica acta.

Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome-c-oxidoreductase

J. Berden, H. Goebel, R. Schutgens, 1984, European Journal of Pediatrics.

IMPAIRED ABILITY OF PEROXISOMES TO ACTIVATE VERY-LONG-CHAIN FATTY ACIDS IN X-LINKED ADRENOLEUKODYSTROPHY

R. Wanders, R. Schutgens, J. Tager, 1988, The Lancet.

Functions and biogenesis of peroxisomes in relation to human disease

Koninklijke Nederlandse Akademie van Wetenschappen, H. Tabak, R. Wanders, 1995 .

Peroxisomal β-oxidation defect with detectable peroxisomes: A case with neonatal onset and progressive course

R. Wanders, R. Schutgens, P. Barth, 1990, European Journal of Pediatrics.

Di- and trihydroxycholestanoic acidaemia with hepatic failure

R. Schutgens, R. Wanders, G. Mannaerts, 1990, Journal of Inherited Metabolic Disease.

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. Wanders, C. Schalkwijk, R. Schutgens, 1988, Journal of Inherited Metabolic Disease.

Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients.

R. Schutgens, J. Zeman, R. Wanders, 1991, Clinica chimica acta; international journal of clinical chemistry.

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.

R. Schutgens, R. Frants, M. S. van der Knaap, 2001, American journal of human genetics.

Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)

R. Schutgens, J. Lindemans, D. Rosenblatt, 1997, Journal of Inherited Metabolic Disease.

VACTERL and hydrocephalus.

R. Wanders, R. Schutgens, F. Beemer, 1990, American journal of medical genetics.

Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.

R. Hennekam, R. Schutgens, R. Oostra, 1997, American journal of medical genetics.

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

R. Wanders, R. Schutgens, S. Brul, 1991, Journal of Inherited Metabolic Disease.

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. Wanders, R. Schutgens, P. Clayton, 1990, Journal of Inherited Metabolic Disease.

Properties of the ATPase activity associated with peroxisome-enriched fractions from rat liver: comparison with mitochondrial F1F0-ATPase.

R. Wanders, J. Berden, E. Wolvetang, 1990, Biochimica et biophysica acta.

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Rune R. Frants, Allerdien Visser, S. Naidu, 2001, Nature Genetics.

Excessive urinary oxalate excretion after combined renal and hepatic transplantation for correction of hyperoxaluria type 1

G. A. Rose, G. Otto, R. Schutgens, 1990, European Journal of Pediatrics.

2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

J. Vockley, R. Steiner, R. Schutgens, 2000, Pediatric Research.

Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

M. Grompe, R. Schutgens, C. Jakobs, 2001, Molecular genetics and metabolism.

CYTOCHEMICAL DETERMINATION OF HETEROZYGOUS GLUCOSE‐6‐PHOS‐PHATE DEHYDROGENASE DEFICIENCY IN ERYTHROCYTES

R. Schutgens, R. Weening, I. Vogels, 1986, British journal of haematology.

Peroxisomal functions in Mulibrey nanism

R. Wanders, R. Schutgens, M. Ryynänen, 1994, Journal of Inherited Metabolic Disease.

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

R. Schutgens, K. Tada, P. Barth, 1988, Journal of Inherited Metabolic Disease.

Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies.

R. Wanders, R. Schutgens, H. Heymans, 1987, Enzyme.

Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

R. Schutgens, T. Hashimoto, T. Osumi, 1992, The Journal of clinical investigation.

The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.

S. Naidu, M. Knaap, L. Sandkuijl, 1999, American journal of human genetics.

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

R. Schutgens, D. Rosenblatt, B. Poorthuis, 1992, European Journal of Pediatrics.

Lorenzo's oil and platelet activation in adrenomyeloneuropathy and asymptomatic X-linked adrenoleukodystrophy.

R. Schutgens, A. Konijnenberg, A. Sturk, 1998, Platelets.

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

I. Dianzani, R. Schutgens, K. Gibson, 1991, The Journal of pediatrics.

Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.

R. Wanders, R. Schutgens, M. van den Berg, 1991, Biochimica et biophysica acta.

Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome

R. Schutgens, F. Wijburg, A. van Rooij, 1997, Journal of Inherited Metabolic Disease.

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

R. Wanders, R. Schutgens, W. Kleijer, 1991, Journal of Inherited Metabolic Disease.

Di- and trihydroxycholestanaemia in twin sisters

R. Wanders, R. Schutgens, M. Casteels, 1991, Journal of Inherited Metabolic Disease.

Very long chain fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome

R. Wanders, R. Schutgens, W. Kleijer, 1989, European Journal of Pediatrics.

Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver

A. Ribes, R. Schutgens, R. Wanders, 1996, Annals of the New York Academy of Sciences.

Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.

D. Turnbull, R. Schutgens, L. Bindoff, 1992, Neuropediatrics.

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

R. Wanders, R. Schutgens, C. Jakobs, 1991, Journal of Inherited Metabolic Disease.

L‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease

J. Valk, H. Hartung, M. Durán, 1992, Annals of neurology.

Clinical and Magnetic Resonance Imaging Features of L-2-Hydroxyglutaric Acidemia: Report of Three Cases in Comparison With Canavan Disease

R. Schutgens, R. Wanders, G. Erdem, 1996, Journal of child neurology.

L-2-Hydroxyglutaric aciduria and lactic acidosis

P. Vreken, R. Wanders, R. Schutgens, 1998, Journal of Inherited Metabolic Disease.

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

H. Hartung, M. Durán, F. Hanefeld, 1993, Journal of Inherited Metabolic Disease.

Detection of glucose-6-phosphate dehydrogenase deficiency in erythrocytes: a spectrophotometric assay and a fluorescent spot test compared with a cytochemical method.

N. Nagelkerke, C. V. van Noorden, R. Schutgens, 1987, Clinica chimica acta; international journal of clinical chemistry.

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

R. Schutgens, K. Rajagopalan, J. Johnson, 1991, Journal of Inherited Metabolic Disease.

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

R. Wanders, R. Schutgens, J. Tager, 1985, Journal of Inherited Metabolic Disease.

Metabolic Aspects of Peroxisomal Disorders

S. Denis, R. Wanders, R. Schutgens, 1996, Annals of the New York Academy of Sciences.

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

R. Kaul, R. Matalon, R. Schutgens, 1996, American journal of human genetics.

Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome.

R. Wanders, R. Schutgens, H. Heymans, 1985, Biochemical and Biophysical Research Communications - BBRC.

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

R. Wanders, R. Schutgens, H. Heymans, 1985, Journal of Inherited Metabolic Disease.

Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome.

R. Wanders, R. Schutgens, P. Barth, 1987, Experimental Cell Research.

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. Wanders, R. Schutgens, B. H. M. Zoeters, 1988, Journal of Inherited Metabolic Disease.

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay

R. Wanders, R. Schutgens, P. Clayton, 1994, Journal of Inherited Metabolic Disease.

The inborn errors of peroxisomal beta-oxidation: a review.

R. Wanders, R. Schutgens, H. Heymans, 1990, Journal of inherited metabolic disease.

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

R. Wanders, R. Schutgens, S. Jurriaans, 1988, Journal of Inherited Metabolic Disease.

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

R. Schutgens, K. Hayasaka, K. Tada, 1986, Journal of Inherited Metabolic Disease.

First prenatal diagnosis of acyl-CoA oxidase deficiency

R. Wanders, R. Schutgens, C. Jakobs, 1990, Journal of Inherited Metabolic Disease.

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

R. Wanders, R. Schutgens, P. Barth, 1987, Journal of Inherited Metabolic Disease.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS Pages 1054-1061 ACTIVITY OF PEROXISOMAL ENZYMES AND INTRACELLULAR DISTRIBUTION OF CATALASE IN ZELLWEGER SYNDROME

R. Schutgens, R. Wanders, J. Tager, 2005 .

Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata.

R. Schutgens, R. Wanders, I. Bouman, 1993, Clinical chemistry.

Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders.

R. Wanders, R. Schutgens, J. Saudubray, 1987, Clinica chimica acta; international journal of clinical chemistry.