Article
[Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases].
Urologiia (Moscow, Russia : 1999) - 1 Jun 2020
Litvinova M M, Filippova T V, Svetlichnaya D V, Morozov S L, Chugunov I S, Nuralieva S Z, Rudenko V I, Gadzhieva Z K, Subbotina T I, Shumikhina M V
Abstract excerpt
Kidney stone disease (KSD) is an actual problem of modern health care. By now, more than 80 monogenic forms of urolithiasis have been described. To diagnose such forms of KSD different molecular genetic technologies are used. In the current article 5 clinical cases of KSD among the patients aged 1-9 years old are presented. All of them underwent comprehensive instrumental, clinical, laboratory and molecular...
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