Genetic and Phenotypic Heterogeneity in Disorders of Peroxisome Biogenesis—A Complementation Study Involving Cell Lines from 19 Patients

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

Biogenesis of Peroxisomes

1985 • 1,108 citations

Production of mammalian somatic cell hybrids by means of polyethylene glycol treatment

1975 • 549 citations

LYSOSOMES OF THE ARTERIAL WALL

1972 • 410 citations

Adrenoleukodystrophy

1981 • 383 citations

Peroxisomal Membrane Ghosts in Zellweger Syndrome—Aberrant Organelle Assembly

1988 • 327 citations

Peroxisomal disorders: A newly recognised group of genetic diseases

1986 • 313 citations

Disorders of peroxisome biogenesis

1995 • 289 citations

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

1986 • 216 citations

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1980 • 199 citations

Acyl-CoA oxidase contains two targeting sequences each of which can mediate protein import into peroxisomes.

1988 • 196 citations

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

1983 • 183 citations

Peroxisomal integral membrane proteins in control and Zellweger fibroblasts.

1988 • 175 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

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

1968 • 122 citations

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

1975 • 108 citations

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

1975 • 102 citations

Cytochemistry of human catalase. The demonstration of hepatic and renal peroxisomes by a high temperature procedure.

1979 • 94 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

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

1985 • 83 citations

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

1986 • 82 citations

Biogenesis of Peroxisomes

1985 • 58 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

Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome).

1986 • 49 citations

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

1988 • 46 citations

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders

1989 • 46 citations

Myopathy in an infant with a fatal peroxisomal disorder

1986 • 29 citations

Adrenoleukodystrophy: Increased plasma content of saturated very long-chain fatty-acids

2011 • 18 citations

Procedures for the Synthesis of Ether Lipids

1983 • 16 citations

A method for enrichment of hybrid somatic cells: Complementation studies in certain lysosomal enzymopathies

1984 • 12 citations