Article
[Program for diagnosis and prevention of inherited metabolic diseases of cellular organelles].
Vestnik Rossiiskoi akademii meditsinskikh nauk - 1 Jan 1999
Krasnopol'skaia K D, Bukina T M, Akhunov V S, Evdokimenkov V N, Zakharova E Iu, Pokrovskaia A Ia, Voskoboeva E Iu, Shekhter O V, Tishkanina S V, Mytnikova E A, Pogorelov A G
Abstract excerpt
A programme for diagnosis and prevention of lysosomal, peroxisomal, and mitochondrial [respiratory chain diseases (RCD)] diseases was developed on clinical, biochemical, and molecular approaches. The authors made postnatal diagnosis was made in 674 patients from 516 families and prenatal diagnosis in 124 fetuses in 94 families at risk. DNA analysis of mutant alleles in the mucopolysaccharidoses (MPS) I, II, and...
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