By George Laskaris
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Additional info for Color atlas of oral diseases in children and adolescents
It appears that studies on metabolites in blood, urine and other body fluids reveal a genetic metabolic disease in 4-5% of the children investigated. Enzyme (protein) assays are usually performed on a more selected group of patients and this is reflected in a higher percentage of diagnoses of inborn errors of metabolism. ·Central repositories are available in Canada, the USA and in Europe. One of the latter is located at Dept. Box 1738, Rotterdaml Prof. Dr. F. Niermeijer tel. (10) 4634307. 35 Table 1.
Suboccipitobregrnatic FIGURE 8. Fetal orbites at the view of the fetal head showing 16th week of pregnancy. the cerebellum, cellebral peduncles and echogenic ambient cysterns. On the lowest section through the brain stern image of the base of the skull may be seen demonstrating the typical Xshaped appearance secondary to the greater wing of the sphenoid and the upper portion of the petrous pyramids. Interest should be turned also to the cerebellum and the posterior fossa. The posterior fossa is well visualized by performing oblique or coronal scans and its lateral regions are occupied by the moderately echogenic cerebellar hemispheres.
Central repositories are available in Canada, the USA and in Europe. One of the latter is located at Dept. Box 1738, Rotterdaml Prof. Dr. F. Niermeijer tel. (10) 4634307. 35 Table 1. Biochemical diagnosis of genetic disease Metabolites enzyme deficiency in blood in leucocytes, fibroblasts and urine or organ biopsy total number of patients studied 5000 1500 225 200 carbohydrate abn. 11% 22% mucopolysaccharidoses 14% 16% 2% 20% total number affected percentage different categories of disease (muco) lipidoses aminoacidopathies 55% organic acidemias 13% nucleic acid abn.