title: [THE DIFFICULTY IN DIAGNOSING OF RARE FORMS OF CONGENITAL DISORDERS OF AMINO ACID METABOLISM IN INFANTS (HEREDITARY TYROSINEMIA)].
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%.
authors.forename: N I
authors.initials: NI
authors.lastname: Melnikova
authors.forename: E V
authors.initials: EV
authors.lastname: Kartseva
authors.forename: A S
authors.initials: AS
authors.lastname: Kirsanov
authors.forename: I A
authors.initials: IA
authors.lastname: Strogonov
authors.forename: L N
authors.initials: LN
authors.lastname: Ageeva
authors.forename: G D
authors.initials: GD
authors.lastname: Kharitonova
authors.forename: E B
authors.initials: EB
authors.lastname: Olhova
authors.forename: T Yu
authors.initials: TY
authors.lastname: Belyaeva
mesh_terms: D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020176:Tyrosinemias / Q000097:blood / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy