Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue.
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Abnormalities, Multiple↗
Biomedical subjects
D M Danks
Publications and source records attributed to D M Danks.
Proceedings: The ultrastructure of the aorta of infant with Menkes' syndrome.
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Aorta↗
A precocious, autosomal recessive type of osteodysplasty.
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Bone Diseases, Developmental↗
Craniomandibular dermatodysostosis.
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Abnormalities, Multiple↗
Menkes kinky-hair syndrome. An inherited defect in the intestinal absorption of copper with widespread effects.
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Brain Diseases↗
The clinical and biochemical findings in three cases of hypersarcosinemia and one case of transient hypersarcosinuria associated with folic acid deficiency.
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Adolescent↗
Identification of mucopolysaccharidoses.
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Carbohydrate Metabolism, Inborn Errors↗
Menkes' steely-hair (kinky-hair) disease.
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Brain Diseases↗
Prospects for the prevention of genetic disease.
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Adult↗
Menkes' kinky hair disease: further definition of the defect in copper transport.
Duodenal mucosa obtained from two patients with Menkes' syndrome contained abnormally large amounts of copper. The defect in copper absorption in this disease must lie in the process of intracellular handling or of transport across the serosal cell membrane. Fibroblastic cells cultured from the skin of patients and of heterozygous females show intense metachromasia in primary culture which disappears in subculture. These cells may be useful for the study of copper transport in vitro and for the identification of heterozygotes in affected families.
Biological Transport↗
Demonstration of two forms of phenylalanine hydroxylase in human liver obtained at autopsy.
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Adult↗
Some properties of phenylalanine hydroxylase in human foetal liver.
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Fetus↗
A new syndrome of broad terminal phalanges and facial abnormalities.
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Abnormalities, Multiple↗
Detection of life threatening inborn errors of metabolism during infancy.
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Acidosis↗
Familial occurrence of congenital laryngeal clefts.
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Child↗
Precocious type of osteodysplasia. A new autosomal recessive form.
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Bone Diseases, Developmental↗
Cytomegalovirus in human milk.
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Adolescent↗