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Article
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
Sclerosteosis and Van Buchem disease are related recessive sclerosing bone dysplasias caused by alterations in the SOST gene. We tested the hypothesis that craniodiaphyseal dysplasia (CDD) (MIM 122860), an extrem...
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Article
Severe, atypical form of dyschondrosteosis (report of two cases)
We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower e...
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Article
Osteochondrodystrophies with marked platyspondyly and distinctive peripheral anomalies
Two patients with a unique generalised bone dysplasia demonstrating severe distinctive platyspondyly are reported. This group of crippling disorders defies metabolic and histological classification. The radio...
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Article
Inhibition of plant and mammalian diamine oxidase by substrate analogues
Imidazoles, aliphatic substrate analogues and the natural dipeptides, carnosine and anserine, were investigated as inhibitors of diamine oxidase from the pig kidney, human pregnancy plasma and pea seedlings. I...
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Article
Involvement of diamine oxidase in catabolism of14C-putrescine in micein vivo with special reference to the formation ofγ-aminobutyric acid
Tissues of mice killed 2.5 or 30 min after injection of14C-putrescine, contained14C-γ-aminobutyric acid, an unidentified14C-compound, and unchanged14C-putrescine. In mice pretreated with aminoguanidine, a powerfu...
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Article
The histaminase activity of guinea-pig's plasma during experimental inflammation II. Some properties of the enzyme
The histamine inactivating enzyme(s) in guinea-pig's plasma, which increased during inflammation, has been studied in animals with inflammation produced by subcutaneous injection of turpentine. The enzyme was ...