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Start Over Descriptor "Tyrosinemias blood" Language russian
1 results on '"Tyrosinemias blood"'

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

Author

Melnikova NI, Kartseva EV, Kirsanov AS, Strogonov IA, Ageeva LN, Kharitonova GD, Olhova EB, and Belyaeva TY

Subjects
Diagnosis, Differential, Fatal Outcome, Humans, Infant, Newborn, Male, Tyrosinemias blood, Tyrosinemias pathology, Tyrosinemias therapy, Tyrosinemias diagnosis
Abstract

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%.

Published
2015

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