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Biomedical subjects

A Gajdos

Publications and source records attributed to A Gajdos.

At least 19 recordsLinked to original sources
PubMed1978

[Familial immune deficit and genetic deficiency of adenosine deaminase or of nucleoside phosphorylase (author's transl)].

Two familial enzymopathies, always related to the combined immune deficit, are reviewed. Both are clinically characterized by repeated infections since the birth, leading to fatal issue before age of 4 years. The hereditary deficiency of adenosine deaminase is associated to the deficient functions of T and B lymphocytes. The activity of the enzyme is non detectable in the erythrocytes, strongly reduced in the lymphocytes and in several organs. In hereditary deficiency of nucleoside phosphorylase the functional anomalies of T lymphocytes are observed. The biochemical mechanism of the relation between the two enzymopathies and the deficient function of the immune system is centered on the metabolic pathway of purine nucleosides ans nucleotides.

Adenosine Deaminase↗
PubMed1977

[Hereditary deficiency in the enzymes of the biosynthesis of collagen. The Ehlers-Danlos syndromes (author's transl)].

The mechanism of the biosynthetic pathway of collagen is briefly summarised. The hereditary enzyme deficiencies of this pathway concern some of the Ehlers-Danlos syndromes. Seven clinically well defined varieties of these syndromes have been recognized, all presenting, as common feature, an hyperextensivitry of joints and hyperelastic, excessively fragile skin. In three of these seven varieties, the enzyme defect has been recently discovered: the type V (associated with chromosome X) is characterized by the deficiency in the lysyl-oxidase, the type VI (ocular) by the deficiency in lysyl-hydroylase; in the type VII (arthrolaxis multiplex congenita) the activity of tropocollagen-peptidase is practically absent. These enzyme deficiencies provide a molecular basis for the interpretation of the pathogenesis of these varieties of the Ehlers-Danlos syndrome.

Amino Acid Oxidoreductases↗