Variability in clinical expression of Menkes syndrome

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1983 · 2.7K citations

Life Sciences, Genetics, Molecular Genetics +13

Primary defect in copper transport underlies mottled mutants in the mouse

David M. Hunt · Nature · 1974 · 322 citations

Medicine, Genetics, Molecular Genetics +11

X-Linked Cutis Laxa

Peter H. Byers, Robert C. Siegel, Karen A. Holbrook et al. · New England Journal of Medicine · 1980 · 207 citations

Medicine, Dermatology, Pathology +14

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

Helena Kuivaniemi, Leena Peltonen, Aarno Palotie et al. · Journal of Clinical Investigation · 1982 · 106 citations · Full text

Medicine, Biochemistry, Dermatology +14

Detection of metabolic carcinogen intermediates in urine of carcinogen-fed rats by means of bacterial mutagenesis

Barry Commoner, Antony J. Vithayathil, Joyce Henry · Nature · 1974 · 83 citations

Pharmacy, Biochemistry, Toxicology +16