[THE DIFFICULTY IN DIAGNOSING OF RARE FORMS OF CONGENITAL DISORDERS OF AMINO ACID METABOLISM IN INFANTS (HEREDITARY TYROSINEMIA)].

Autor: Melnikova NI, Kartseva EV, Kirsanov AS, Strogonov IA, Ageeva LN, Kharitonova GD, Olhova EB, Belyaeva TY
Jazyk: ruština
Zdroj: Anesteziologiia i reanimatologiia [Anesteziol Reanimatol] 2015 May-Jun; Vol. 60 (3), pp. 16-9.
Abstrakt: Diagnosis of amino acid metabolism disorders according to the clinics without laboratory diagnosis is almost impossible in infants with a history of neonatal and/or premorbid background and multi-organ failure. Mortality due to hereditary tyrosinemia type I is greater than 90%.
Databáze: MEDLINE