Markedly Reduced Activity of Lysyl Oxidase in Skin and Aorta from a Patient with Menkes' Disease Showing Unusually Severe Connective Tissue Manifestations

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.

1967 • 1,002 citations

Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects.

1972 • 550 citations

MENKES' KINKY-HAIR SYNDROME

1972 • 418 citations

[10] Posttranslational enzymes in the biosynthesis of collagen: Intracellular enzymes

1982 • 406 citations

[7] Collagen cross-linking amino acids

1987 • 319 citations

The Chemistry and Biology of Collagen

1979 • 222 citations

X-Linked Cutis Laxa

1980 • 206 citations

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

1984 • 195 citations

Menkes disease: a biochemical abnormality in cultured human fibroblasts.

1976 • 172 citations

Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome

1980 • 154 citations

Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.

1988 • 143 citations

COPPER INCORPORATION STUDIES ON CULTURED CELLS FOR PRENATAL DIAGNOSIS OF MENKES' DISEASE

1976 • 128 citations

Decreased lysyl oxidase activity in the aneurysm-prone, mottled mouse.

1977 • 98 citations

Disorders of copper transport

1989 • 96 citations

A SEX-LINKED DEFECT IN THE CROSS-LINKING OF COLLAGEN AND ELASTIN ASSOCIATED WITH THE MOTTLED LOCUS IN MICE

1974 • 86 citations

Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.

1985 • 81 citations

A mild form of Menkes steely hair syndrome

1981 • 78 citations

The production of lysyl oxidase by human fibroblasts in culture

1972 • 68 citations

Functional properties of collagen and elastin

1988 • 68 citations

Induction of lysyl oxidase with copper. Properties of an in vitro system.

1979 • 53 citations

Menkes' disease: long-term treatment with copper and D-penicillamine

1988 • 52 citations

Variability in clinical expression of Menkes syndrome

1988 • 51 citations

The mild form of Menkes disease: Progress report on the original case

1988 • 34 citations

Atypical Menkes steely hair disease

1988 • 34 citations

Of mice and men, metals and mutations.

1986 • 31 citations

Brittle cornea syndrome: An heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation

1990 • 28 citations

Menkes X linked disease: two clonal cell populations in heterozygotes.

1980 • 26 citations

Life‐span and Menkes kinky hair syndrome: report of a 13‐year course of this disease

1988 • 24 citations

Biological Applications of the Carbon Rod Atomizer in Atomic Absorption Spectroscopy. 2. Determination of Copper in Small Samples of Tissue

1972 • 23 citations

Copper Metabolism in Menkes Disease1

2015 • 20 citations

Menkes' disease: Clinical, therapeutic and biochemical studies

1983 • 14 citations

Skin lysyl oxidase activity is not rate limiting for collagen crosslinking in the glucocorticoid-Treated rat

1986 • 8 citations

A skeletal and connective tissue disorder associated with lysyl oxidase deficiency and abnormal copper metabolism.

1982 • 5 citations

Menkes-Syndrom mit exzessiven Skelettveränderungen

1985 • 3 citations