Peroxisomal disorders: A newly recognised group of genetic diseases

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

The Metabolic Basis of Inherited Disease

1979 • 2,083 citations

Peroxisomes (microbodies and related particles).

1966 • 1,635 citations

A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug.

1976 • 1,136 citations

Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome

1973 • 777 citations

NATURE OF THE HEPATOMEGALIC EFFECT PRODUCED BY ETHYL-CHLOROPHENOXY-ISOBUTYRATE IN THE RAT

1965 • 599 citations

Metabolic Pathways in Peroxisomes and Glyoxysomes

1981 • 558 citations

Adrenoleukodystrophy

1975 • 459 citations

Carnitine and Its Role in Fatty Acid Metabolism* *Work reviewed from this laboratory was supported by grants A-1465 and A-1682 from the National Institutes of Health.

1963 • 446 citations

Mitochondrial and peroxisomal fatty acid oxidation in liver homogenates and isolated hepatocytes from control and clofibrate-treated rats.

1979 • 436 citations

Fatty acid abnormality in adrenoleukodystrophy.

1976 • 433 citations

The Liver: Biology and Pathology

1989 • 348 citations

GLYCEROLIPID BIOSYNTHESIS IN PEROXISOMES VIA THE ACYL DIHYDROXYACETONE PHOSPHATE PATHWAY*

1982 • 347 citations

Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.

1984 • 344 citations

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)

1983 • 340 citations

Oxidation of spermidine and spermine in rat liver: purification and properties of polyamine oxidase

1977 • 336 citations

"MICROBODIES" AND THE PROBLEM OF MITOCHONDRIAL REGENERATION IN LIVER CELLS

1956 • 317 citations

Lysosomes and lysosomal storage diseases

1981 • 315 citations

Biogenesis of peroxisomes: intracellular site of synthesis of catalase and uricase.

1978 • 284 citations

The Cerebrohepatorenal (Zellweger) Syndrome

1984 • 268 citations

Three Hypolipidemic Drugs Increase Hepatic Palmitoyl-Coenzyme A Oxidation in the Rat

1977 • 262 citations

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

1984 • 256 citations

Heterogeneity of Chondrodysplasia punctata

1971 • 236 citations

A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.

1964 • 235 citations

Adrenomyeloneuropathy

1977 • 225 citations

Hepatic peroxisome (microbody) proliferation in rats fed plasticizers and related compounds

1978 • 224 citations

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

1984 • 200 citations

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1980 • 199 citations

Subcellular localization of acyl coenzyme A: dihydroxyacetone phosphate acyltransferase in rat liver peroxisomes (microbodies).

1979 • 194 citations

Synthesis of a major integral membrane polypeptide of rat liver peroxisomes on free polysomes.

1984 • 194 citations

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

1984 • 192 citations

Deficiency of Enzymes Catalyzing the Biosynthesis of Glycerol-Ether Lipids in Zellweger Syndrome

1984 • 186 citations

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

1983 • 183 citations

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

1982 • 177 citations

The peroxisome: a new cytoplasmic organelle

1969 • 177 citations

Microbodies: constituent organelles of animal cells.

1972 • 173 citations

Formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid by rat liver peroxisomes.

1983 • 164 citations

Peroxisomal Defects in Neonatal-Onset and X-Linked Adrenoleukodystrophies

1985 • 150 citations

Mitochondrial myopathies

1984 • 146 citations

Bronzekrankheit und sklerosierende Encephalomyelitis

1923 • 143 citations

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

1984 • 133 citations

Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome

1985 • 128 citations

Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies

1972 • 127 citations

Biosynthesis and intracellular transport of enzymes of peroxisomal beta-oxidation.

1984 • 124 citations

Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study.

1968 • 122 citations

Microbodies in the Living Cell

1983 • 122 citations

Synthesis of catalase in two cell-free protein-synthesizing systems and in rat liver

1978 • 121 citations

Intracellular localization of catalase and some oxidases in rat liver

1960 • 118 citations

Peroxisomes and Related Particles in Animal Tissues

1980 • 110 citations

Studies on the α Oxidation of Phytanic Acid by Rat Liver Mitochondria

1969 • 108 citations

Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease

1975 • 108 citations

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

1986 • 106 citations

Identification of female carriers of adrenoleukodystrophy

1983 • 100 citations

Peroxisomes (microbodies) in cell pathology.

1984 • 97 citations

C27 Bile Acids in Infants with Coprostanic Acidemia and Occurrence of a 3alpha,7alpha,12alpha-Trihydroxy-5beta-C29 Dicarboxylic Bile Acid as a Major Component in Their Serum

1979 • 90 citations

Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome

1984 • 89 citations

Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females.

1982 • 89 citations

Acyl-Coa oxidase and hydratase-dehydrogenase, two enzymes of the peroxisomal beta-oxidation system, are synthesized on free polysomes of clofibrate-treated rat liver.

1984 • 88 citations

The Prenatal Diagnosis of Adrenoleukodystrophy. Demonstration of Increased Hexacosanoic Acid Levels in Cultured Amniocytes and Fetal Adrenal Gland

1982 • 86 citations

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

1985 • 85 citations

Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders.

1985 • 84 citations

Chondrodysplasia punctata — Rhizomelic form

1976 • 84 citations

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

1985 • 77 citations

Biochemical studies in the cerebro‐hepato‐renal syndrome of Zellweger: A disturbance in the metabolism of pipecolic acid

1979 • 77 citations

A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis

1977 • 76 citations

Implication of a peroxisomal enzyme in the catabolism of glutaryl-CoA

1984 • 74 citations

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

1983 • 73 citations

Synthesis of 3-ketoacyl-CoA thiolase of rat liver peroxisomes on free polyribosomes as a larger precursor. Induction of thiolase mRNA activity by clofibrate

1985 • 73 citations

Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger.

1985 • 72 citations

Ultrastructure of the Liver in the Cerebrohepatorenal Syndrome of Zellweger

1983 • 71 citations

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

1985 • 71 citations

Increased Synthesis of Hexacosanoic Acid (C26 :0) by Cultured Skin Fibroblasts from Patients with Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN)1

1981 • 70 citations

The peroxisomes of human hepatocytes.

1977 • 70 citations

Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings

1981 • 70 citations

Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

1984 • 69 citations

Cell-free synthesis of the enzymes of peroxisomal β-oxidation

1982 • 68 citations

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

1985 • 66 citations

Fatty acid products of peroxisomal β-oxidation

1980 • 65 citations

Cerebro-hepato-renal syndrome of zellweger: Clinical symptoms and relevant laboratory findings in 16 patients

1982 • 64 citations

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome

1984 • 64 citations

New form of adrenoleukodystrophy

1981 • 64 citations

Refsum’s Disease: Management by Diet and Plasmapheresis

1985 • 63 citations

Degradation of cholesterol to propionic acid by rat liver peroxisomes

1982 • 62 citations

Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome

1983 • 57 citations

Plasma and skin fibroblast C ₂₆ fatty acids in infantile Refsum's disease

1984 • 54 citations

The design of a diet restricted in saturated very long-chain fatty acids: therapeutic application in adrenoleukodystrophy

1984 • 51 citations

Serum very long chain fatty acid pattern in Zellweger syndrome

1984 • 51 citations

The cerebro-hepato-renal (Zellweger) syndrome: Lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma

1985 • 50 citations

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

1986 • 46 citations

Licht- und Elektronenmikroskopische Leberbefunde beim Cerebro-Hepato-Renalen Syndrom nach Zellweger (Peroxisomen-Defizienz)

1979 • 45 citations

Peroxisomes and glyoxysomes

1982 • 43 citations

Hyperpipecolic acidemia in neonatal adrenoleukodystrophy

1984 • 42 citations

Biosynthesis of Carnitine Octanoyltransferase and Carnitine Palmitoyltransferase1

1983 • 39 citations

Pathologic Alterations in the Brain and Liver in Hyperpipecolic Acidemia

1983 • 34 citations

Identification of 3α,7α,12α‐trihydroxy‐5β‐cholestan‐26‐oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease

1984 • 31 citations

Theβ‐oxidation of dicarboxylic acids in isolated mitochondria and peroxisomes

1983 • 27 citations

Zur Morphologie und Diagnostik des Zellweger Syndroms

1981 • 27 citations

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

1985 • 26 citations

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

1986 • 26 citations

Ocular manifestations of Conradi and Zellweger syndromes.

1981 • 23 citations

Intrahepatic pigment and crystal forms in patients with cerebrotendinous xanthomatosis (CTX)

1978 • 23 citations

The prenatal diagnosis of the cerebro‐hepato‐renal syndrome of Zellweger

1985 • 22 citations

Does microsomal glycerophosphate acyltransferase also catalyze the acylation of dihydroxyacetone phosphate?

1984 • 21 citations

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

1985 • 18 citations

The Cerebro-Hepato-Renal Syndrome of Zellweger

1984 • 11 citations

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

1985 • 11 citations

Adrenoleukodystrophy: diagnosis and carrier detection by determination of long‐chain fatty acids in cultured fibroblasts

1982 • 10 citations

[Chondrodysplasia punctata congenita: a genetic heterogenous disease].

1984 • 3 citations

Impaired Maturation of Peroxisomal ß-oxidation Enzymes in Fibroblasts from Patients with the Zellweger Syndrome and Infantile Refsum Disease

1986 • 1 citations