PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD

• Autori principali: L. D. Fominykh (Autore), G. V. Solovyeva (Autore), M. L. Vyaznikova (Autore), N. G. Muratova (Autore), T. E. Serebrenikova (Autore), E. A. Kostyuchek (Autore)
• Natura: Libro
• Pubblicazione: Union of pediatricians of Russia, 2014-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Propionic aciduria is a rare hereditary metabolic disease with autosomal-recessive inheritance mode associated with organic acid metabolic disorder. Early diagnostics is difficult as clinical symptoms caused by metabolic defects are often observed at hypoxicischemic central nervous system lesion, br...