The peroxisome and the eye

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1979 • 2,083 citations

Peroxisomes (microbodies and related particles).

1966 • 1,635 citations

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

1973 • 777 citations

Adrenoleukodystrophy

1975 • 459 citations

Fatty acid abnormality in adrenoleukodystrophy.

1976 • 433 citations

The Subcellular Distribution of Carnitine Acyltransferases in Mammalian Liver and Kidney

1973 • 399 citations

Peroxisomes in Biology and Medicine

1987 • 392 citations

Isolation and Characterization of Myelin

1977 • 389 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

Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation

1990 • 344 citations

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

1983 • 340 citations

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

1986 • 333 citations

Peroxisomal Membrane Ghosts in Zellweger Syndrome—Aberrant Organelle Assembly

1988 • 327 citations

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.

1981 • 275 citations

The Cerebrohepatorenal (Zellweger) Syndrome

1984 • 268 citations

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

1984 • 256 citations

INDIVIDUAL PEROXISOMAL βT‐OXIDATION ENZYMES*

1982 • 236 citations

Heterogeneity of Chondrodysplasia punctata

1971 • 236 citations

A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.

1964 • 235 citations

Adrenoleukodystrophy: Impaired Oxidation of Very Long Chain Fatty Acids in White Blood Cells, Cultured Skin Fibroblasts, and Amniocytes

1984 • 223 citations

Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.

1988 • 219 citations

Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

1986 • 216 citations

Cerebro-hepato-renal syndrome of Zellweger: An inherited disorder of neuronal migration

1972 • 214 citations

Microbodies and related particles. Morphology, biochemistry, and physiology.

1969 • 210 citations

Enzymes of Lipid Metabolism II

1986 • 208 citations

Complete nucleotide sequence of cDNA and predicted amino acid sequence of rat acyl-CoA oxidase.

1987 • 206 citations

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

1984 • 186 citations

Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

1982 • 179 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 mechanism of arrest of neuronal migration in the Zellweger malformation: An hypothesis based upon cytoarchitectonic analysis

1978 • 171 citations

Lignoceroyl‐CoASH ligase: enzyme defect in fatty acid β‐oxidation system in X‐linked childhood adrenoleukodystrophy

1986 • 165 citations

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

1988 • 164 citations

Structural analysis of cDNA for rat peroxisomal 3-ketoacyl-CoA thiolase.

1987 • 159 citations

3-Hydroxy-3-methylglutaryl-coenzyme A reductase is present in peroxisomes in normal rat liver cells.

1985 • 158 citations

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

1988 • 158 citations

Conversion of 3α,7α,12α‐trihydroxy‐5β‐cholestanoic acid into cholic acid by rat liver peroxisomes

1980 • 155 citations

Peroxisomal Defects in Neonatal-Onset and X-Linked Adrenoleukodystrophies

1985 • 150 citations

Conversion of lysine to saccharopine by human tissues

1968 • 144 citations

Bronzekrankheit und sklerosierende Encephalomyelitis

1923 • 143 citations

Cerebro-hepato-renal syndrome

1967 • 138 citations

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

1984 • 133 citations

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

1988 • 133 citations

Infantile Refsum disease: an inherited peroxisomal disorder

1987 • 131 citations

Adrenoleukodystrophy: Impaired oxidation of long chain fatty acids in cultured skin fibroblasts and adrenal cortex

1981 • 130 citations

A new dietary therapy for adrenoleukodystrophy: Biochemical and preliminary clinical results in 36 patients

1987 • 125 citations

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

1984 • 124 citations

Heredopathia Atactica Polyneuritiformis

1950 • 123 citations

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

1968 • 122 citations

Pipecolic acid pathway: The major lysine metabolic route in the rat brain

1976 • 119 citations

Refsum's disease: characterization of the enzyme defect in cell culture

1969 • 118 citations

A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings

1965 • 117 citations

Cholesterol synthesis in rat liver peroxisomes. Conversion of mevalonic acid to cholesterol.

1987 • 117 citations

Peroxisomes and Related Particles in Animal Tissues

1980 • 110 citations

Adrenoleukodystrophy

1978 • 109 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

Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases

1986 • 101 citations

Adreno-leukodystrophy (sex-linked Schilder's disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis.

1974 • 101 citations

Adrenoleukodystrophy: Dietary oleic acid lowers hexacosanoate levels

1987 • 95 citations

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

1982 • 89 citations

Microperoxisomes in the central nervous system of the postnatal rat

1978 • 86 citations

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

1982 • 86 citations

Chondrodysplasia punctata — Rhizomelic form

1976 • 84 citations

BIOGENESIS OF PEROXISOMAL PROTEINS IN VIVO AND IN VITRO*

1982 • 84 citations

The Cerebrohepatorenal (Zellweger) Syndrome: An Improved Method for the Biochemical Diagnosis and its Potential Value for Prenatal Detection

1985 • 83 citations

The Cerebro-Hepato-Renal (Zellweger) Syndrome And Other Peroxisomal Disorders

1987 • 82 citations

Adreno-leukodystrophy

1974 • 82 citations

Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: Studies in four children

1986 • 82 citations

Studies on the Metabolic Error in Refsum's Disease*

1967 • 81 citations

Adreno-leukodystrophy (Sex-Linked Schilder Disease)

1974 • 80 citations

Ocular Findings in Primary Hyperoxaluria

1990 • 78 citations

Lysine-ketoglutarate reductase in human tissues

1975 • 77 citations

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

1979 • 77 citations

Heredopathia Atactica Polyneuritiformis

1981 • 73 citations

The conversion of l-lysine to saccharopine and α-aminoadipate in mouse

1971 • 73 citations

Neuropathological Changes in Hereditary Neuropathies: Manifestation of the Syndrome Heredopathia Atactica Polyneuritiformis in the Presence of Interstitial Hypertrophic Polyneuropathy

1956 • 72 citations

Infantile Refsum's disease: A generalized peroxisomal disorder

1988 • 72 citations

Oxalosis and primary hyperoxaluria

1959 • 70 citations

The peroxisomes of human hepatocytes.

1977 • 70 citations

LYSINE METABOLISM IN THE RAT BRAIN: BLOOD—BRAIN BARRIER TRANSPORT, FORMATION OF PIPECOLIC ACID AND HUMAN HYPERPIPECOLATEMIA

1978 • 67 citations

New form of adrenoleukodystrophy

1981 • 64 citations

Animal peroxisomes (microbodies), lipid biosynthesis and the Zellweger syndrome

1983 • 63 citations

Rhizomelic chondrodysplasia punctata: Clinical, pathologic, and biochemical findings in two patients

1988 • 63 citations

Neuronal ceroid lipofuscinosis

1987 • 61 citations

Ophthalmic manifestations of primary oxalosis.

1980 • 61 citations

Ocular Histopathologic and Biochemical Studies of the Cerebrohepatorenal Syndrome (Zellweger's Syndrome) and its Relationship to Neonatal Adrenoleukodystrophy

1983 • 61 citations

The metabolism of D- and L-lysine specifically labeled with 15N

1969 • 58 citations

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

1987 • 56 citations

Ophthalmic Manifestations of Infantile Phytanic Acid Storage Disease

1984 • 56 citations

REFSUM'S SYNDROME HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

1959 • 56 citations

Ocular Pathologic Findings in Neonatal Adrenoleukodystrophy

1987 • 55 citations

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

1984 • 54 citations

The Biosynthesis of Microbodies (Peroxisomes, Glyoxysomes)

1982 • 53 citations

L-pipecolic acid oxidation in the rabbit and cynomolgus monkey

1989 • 53 citations

THE CEREBRO-HEPATO-RENAL SYNDROME (CHRS)

1970 • 52 citations

Childhood Adrenoleukodystrophy

1988 • 52 citations

Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): Clinical and biochemical findings similar to those observed in Zellweger syndrome

1986 • 51 citations

Ocular Involvement in Primary Hyperoxaluria

1984 • 51 citations

Alpha-Oxidation of Branched Chain Fatty Acids in Man and its Failure in Patients with Refsum's Disease Showing Phytanic Acid Accumulation

1966 • 50 citations

Zellweger Syndrome

1981 • 48 citations

Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro‐hepato‐renal syndrome of zellweger

1977 • 48 citations

The adrenal cortex in adreno-leukodystrophy.

1973 • 48 citations

Ophthalmologic Manifestations of X-linked Childhood Adrenoleulcodystrophy

1987 • 46 citations

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

1986 • 46 citations

An Ocular Pathologic Study of Refsum's Syndrome

1971 • 45 citations

Primary Hereditary Oxalosis Retinopathy

1983 • 45 citations

Peroxisomal L-Pipecolic Acid Oxidation Is Deficient in Liver from Zellweger Syndrome Patients

1989 • 45 citations

Ocular Histopathologic Studies of Neonatal and Childhood Adrenoleukodystrophy

1983 • 43 citations

Oxalosis-induced bone disease: a complication of transplantation and prolonged survival in primary hyperoxaluria.

1981 • 42 citations

Zellweger syndrome (cerebro-hepato-renal syndrome)

2009 • 38 citations

Characterization of rat brain microsomal acyl-coenzyme A ligases: Different enzymes for the synthesis of palmitoyl-coenzyme A and lignoceroyl-coenzyme A

1986 • 37 citations

Cerebro-hepato-renal Syndrome of Zellweger

1970 • 36 citations

Phytol and Peroxisome Proliferation

1986 • 35 citations

Hyperpipecolic Acidemia

1982 • 32 citations

A Child with Refsum's Disease: Successful Treatment with Diet and Plasma Exchange

1989 • 31 citations

Oxalosis-induced bone disease

1981 • 31 citations

Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts

1986 • 30 citations

Cerebro-hepato-renal Syndrome of Zellweger

1976 • 30 citations

THE RETINOPATHY OF PRIMARY HYPEROXALURIA

1985 • 30 citations

Adrenoleukodystrophy by Disease of the Eye and Optic Nerve

1976 • 29 citations

ROENTGENOGRAPHIC FEATURES OF THE CEREBROHEPATORENAL SYNDROME OF ZELLWEGER

1972 • 28 citations

Refsum's disease: a disorder of lipid metabolism.

1966 • 27 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

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

1985 • 26 citations

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

1987 • 26 citations

A syndrome of ocular abnormalities, calcification of cartilage, and failure to thrive

1968 • 25 citations

“Flecked retina”—an association with primary hyperoxaluria

1977 • 24 citations

Ocular manifestations of Conradi and Zellweger syndromes.

1981 • 23 citations

Zellweger Syndrome Amniocytes: Morphological Appearance and a Simple Sedimentation Method for Prenatal Diagnosis

1988 • 22 citations

Prenatal diagnosis of zellweger's syndrome by chorionic villus sampling‐and a caveat

1986 • 22 citations

The Cerebro-Hepato-Renal Syndrome (Zellweger’s Syndrome)

1974 • 21 citations

Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome.

1982 • 21 citations

Cerebro-hepato-renal (Zellweger's) Syndrome

1972 • 21 citations

Color vision defects in adrenomyeloneuropathy.

1989 • 21 citations

Biochemical Analysis in Peroxisomal Disorders

1987 • 20 citations

Peroxisome localized human hepatic alanine-glyoxylate aminotransferase and its application to clinical diagnosis

1985 • 18 citations

Alpha-oxidation of Fatty Acids in Various Mammals, and a Phytanic Acid Feeding Experiment in an Animal with a Low Alpha-oxidation Capacity

1967 • 18 citations

Ocular Involvement in Chondrodysplasia Punctata

1974 • 18 citations

Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells

1987 • 18 citations

[Heredopathia atactica polyneuritiformis; reevaluation].

1960 • 17 citations

A case of Refsum's disease: clinical, pathological, ultrastructural and biochemical study.

1971 • 17 citations

L-pipecolaturia in Zellweger syndrome

1986 • 16 citations

Review Article: The Inherited Neurodegenerative Disorders of Childhood: Clinical Assessment

1987 • 15 citations

Optic Atrophy in Primary Oxalosis

1988 • 13 citations

The visual system manifestations of adrenoleukodvstrophy

1981 • 12 citations

Cataracts of dysplasia epiphysialis punctata.

1970 • 10 citations

Visualization of peroxisomes and plasmalogens in first trimester chorionic villus

1987 • 10 citations

Dysplasia epiphysialis punctata with ocular anomalies.

1970 • 9 citations

The Peroxisomal Enzymes of Glycerolipid Metabolism

1986 • 9 citations

Heredopathia atactica polyneuritiformis (Refsum's Disease): a second trial of dietary therapy in two patients.

1971 • 8 citations

Localization of the enzymatic defect in phytanic acid storage disease (Refsum's disease)

1973 • 7 citations

Elucidation of the metabolic error in Refsum's disease: strategy and tactics.

1978 • 6 citations

Peroxisomal Palmityl CoA Oxidase Activity in Ocular Tissues and Cultured Ciliary Epithelial Cells

1989 • 3 citations

[Two cases of chondrodysplasia punctuate are reported].

1977 • 2 citations