Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

1975 • 421 citations

A Heritable Disorder of Connective Tissue

1972 • 412 citations

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

1973 • 257 citations

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

1980 • 160 citations

Lysyl-Protocollagen Hydroxylase Deficiency in Fibroblasts from Siblings with Hydroxylysine-Deficient Collagen

1972 • 157 citations

Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias

1981 • 106 citations

Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts.

1981 • 101 citations

Modification of the tritium-release assays for prolyl and lysyl hydroxylases using Dowex-50 columns

1975 • 99 citations

Collagen synthesis by human amniotic fluid cells in culture: characterization of a procollagen with three identical proα1(I) chains

1978 • 96 citations

Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.

1975 • 74 citations

Ocular Ehlers-Danlos Syndrome With Normal Lysyl Hydroxylase Activity

1976 • 66 citations

Inherited human collagen lysyl hydroxylase deficiency: Ascorbic acid response

1978 • 63 citations

Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of siblings with hydroxylysine-deficient collagen.

1976 • 57 citations

Ehlers-Danlos Syndrome during Pregnancy

1981 • 56 citations

Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant

1979 • 38 citations

Differentiation in human amniotic fluid cell cultures: I: Collagen production.

1977 • 37 citations

Biochemical characterization of variants of the Ehlers‐Danlos syndrome type VI

1983 • 35 citations

Ascorbate Action on Normal and Mutant Human Lysyl Hydroxylases from Cultured Dermal Fibroblasts

1979 • 33 citations

Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos Syndrome Type IV

1980 • 29 citations

Molecular Defects of Collagen Metabolism in the Ehlers‐Danlos Syndrome

1981 • 21 citations