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A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)

American journal of human genetics, 1988-03, Vol.42 (3), p.422-434

1988

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Human Peroxisomal 3-oxoacyl-coenzyme A Thiolase Deficiency

Proceedings of the National Academy of Sciences - PNAS, 1987-04, Vol.84 (8), p.2494-2496

1987

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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

Biochemical and biophysical research communications, 1988-06, Vol.153 (2), p.618-624

1988

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

The Journal of clinical investigation, 1988-06, Vol.81 (6), p.1710-1715

1988

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Abscisic acid induces a cytosolic calcium decrease in barley aleurone protoplasts

FEBS letters, 1991-01, Vol.278 (1), p.69-74

1991

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Biosynthesis and Maturation of Peroxisomal β -oxidation Enzymes in Fibroblasts in Relation to the Zellweger Syndrome and Infantile Refsum Disease

Proceedings of the National Academy of Sciences - PNAS, 1986-08, Vol.83 (16), p.6156-6158

1986

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Peroxisomal fatty acid β-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

The Journal of clinical investigation, 1987-12, Vol.80 (6), p.1778-1783

1987

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Genes affecting flower colour and pH of flower limb homogenates in Petunia hybrida

Theoretical and applied genetics, 1983-09, Vol.66 (3/4), p.271-278

1983

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

Biochemical and biophysical research communications, 1988-05, Vol.152 (3), p.1083-1089

1988

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Genetic and biochemical studies on flavonoid 3'-hydroxylation in flowers of Petunia hybrida

Theoretical and applied genetics, 1985-06, Vol.70 (3), p.300-305

1985

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Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome

Biochemical and biophysical research communications, 1985-02, Vol.126 (3), p.1269-1275

1985

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X-Linked adrenoleukodystrophy: Defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters

Clinica chimica acta, 1987-06, Vol.165 (2), p.321-329

1987

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Genetic and biochemical studies on the conversion of flavanones to dihydroflavonols in flowers of Petunia hybrida

Theoretical and applied genetics, 1985-08, Vol.70 (5), p.561-568

1985

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Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation

Biochimica et biophysica acta, 1988-03, Vol.964 (3), p.303-308

1988

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

Clinica chimica acta, 1987-07, Vol.166 (2), p.255-263

1987

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Infantile Refsum disease: an inherited peroxisomal disorder: comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

European journal of pediatrics, 1987-09, Vol.146 (5), p.477-483

1987

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Acid sphingomyelinase from human urine: purification and characterization

Biochimica et biophysica acta, 1987-12, Vol.922 (3), p.323-336

1987

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A procedure for the rapid purification in high yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies

Analytical biochemistry, 1986-05, Vol.154 (2), p.655-663

1986

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

Journal of inherited metabolic disease, 1988-01, Vol.11 (S2), p.165-168

1988

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Efficient routing of glucocerebrosidase to lysosomes requires complex oligosaccharide chain formation

Biochemical and biophysical research communications, 1986-12, Vol.141 (2), p.452-458

1986

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Properties and genetic control of anthocyanin 5-O-glucosyltransferase in flowers of Petunia hybrida

Planta, 1984-03, Vol.160 (4), p.341-347

1984

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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

Journal of inherited metabolic disease, 1988-06, Vol.11 (S2), p.173-177

1988

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Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease

Biochemical journal, 1990-07, Vol.269 (1), p.93-100

1990

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Properties and genetic control of four methyltransferases involved in methylation of anthocyanins in flowers of Petunia hybrida

Planta, 1984-02, Vol.160 (2), p.174-179

1984

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Characterization of glucocerebrosidase in peripheral blood cells and cultured blastoid cells

Experimental cell research, 1988-08, Vol.177 (2), p.391-398

1988

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A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)

Human Peroxisomal 3-oxoacyl-coenzyme A Thiolase Deficiency

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

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

Abscisic acid induces a cytosolic calcium decrease in barley aleurone protoplasts

Biosynthesis and Maturation of Peroxisomal β -oxidation Enzymes in Fibroblasts in Relation to the Zellweger Syndrome and Infantile Refsum Disease

Peroxisomal fatty acid β-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

Genes affecting flower colour and pH of flower limb homogenates in Petunia hybrida

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

Genetic and biochemical studies on flavonoid 3'-hydroxylation in flowers of Petunia hybrida

Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome

X-Linked adrenoleukodystrophy: Defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters

Genetic and biochemical studies on the conversion of flavanones to dihydroflavonols in flowers of Petunia hybrida

Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation

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

Infantile Refsum disease: an inherited peroxisomal disorder: comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

Acid sphingomyelinase from human urine: purification and characterization

A procedure for the rapid purification in high yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies

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

Efficient routing of glucocerebrosidase to lysosomes requires complex oligosaccharide chain formation

Properties and genetic control of anthocyanin 5-O-glucosyltransferase in flowers of Petunia hybrida

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

Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease

Properties and genetic control of four methyltransferases involved in methylation of anthocyanins in flowers of Petunia hybrida

Characterization of glucocerebrosidase in peripheral blood cells and cultured blastoid cells

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