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

A SIMPLE METHOD FOR THE ISOLATION AND PURIFICATION OF TOTAL LIPIDES FROM ANIMAL TISSUES

1957 • 63,238 citations

The Metabolic Basis of Inherited Disease

1979 • 2,083 citations

Biogenesis of Peroxisomes

1985 • 1,108 citations

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

1973 • 777 citations

The Metabolic Basis of Inherited Disease.

1991 • 409 citations

Peroxisomal disorders: A newly recognised group of genetic diseases

1986 • 313 citations

Heterogeneity of Chondrodysplasia punctata

1971 • 236 citations

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.

1987 • 198 citations

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

1979 • 194 citations

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

1984 • 192 citations

Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activities

1986 • 191 citations

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

1978 • 171 citations

The Enzymic Synthesis of Ethanolamine Plasmalogens

1971 • 157 citations

Peroxisomal Defects in Neonatal-Onset and X-Linked Adrenoleukodystrophies

1985 • 150 citations

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

1984 • 133 citations

Chondrodysplasia punctata—23 cases of a mild and relatively common variety

1976 • 130 citations

Peroxisomes (microbodies) in cell pathology.

1984 • 97 citations

Chondrodysplasia punctata — Rhizomelic form

1976 • 84 citations

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

1985 • 71 citations

Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: Plasma changes and skin fibroblast phytanic acid oxidase

1985 • 69 citations

Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction

1988 • 68 citations

Accumulation and defective β‐oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants

1986 • 64 citations

Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata

1986 • 61 citations

On the levels of alkyl and alk‐1‐enyl glycerolipids in normal and neoplastic tissues: A method of quantification

1974 • 58 citations

Peroxisomal Abnormalities in Rhizomelic Chondrodysplasia Punctata

1986 • 55 citations

Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

1980 • 51 citations

Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

1988 • 41 citations

Diagnosis of Refsum's disease using [1‐¹⁴C]phytanic acid as substrate

1981 • 34 citations

ADRENOMYELONEUROPATHY–CLINICAL and BIOCHEMICAL DIAGNOSIS

1983 • 22 citations

Chondrodysplasia punctata (rhizomelic type): case report and pathologic findings.

1974 • 15 citations

Pathology of chondrodysplasia punctata rhizomelic type.

1974 • 11 citations