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Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I
Author(s) -
André N.,
Roquelaure B.,
Jubin V.,
Ovaert C.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-5085-4
Subject(s) - tyrosinemia , medicine , obstructive hypertrophic cardiomyopathy , cardiomyopathy , metabolic disease , pediatrics , cardiology , heart failure , biology , biochemistry , tyrosine
Summary We report the case of a child who developed severe obstructive hypertrophic cardiomyopathy revealing hereditary tyrosinaemia type I, who was successfully treated with NTBC. The mechanisms underlying the association are discussed.