CLINICAL CASE OF BIOTINIDASE INSUFFICIENCY IN A CHILD OF AN EARLY AGE

• Main Authors: Галина Юрьевна Галиева (Author), Ирина Фаисовна Федосеева (Author), Татьяна Юрьевна Бедарева (Author), Елена Николаевна Урбан (Author)
• פורמט: ספר
• יצא לאור: The Publishing House Medicine and Enlightenment, 2019-11-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Hereditary metabolic diseases - monogenic disorders caused by mutations in genes encoding enzymes or other proteins involved in a particular metabolic process. For many forms of hereditary metabolic diseases were created specific treatment. That is why it catches a particular attention. Biotinidase...