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Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I

✍ Scribed by N. André; B. Roquelaure; V. Jubin; C. Ovaert

Publisher: Springer
Year: 2005
Tongue: English
Weight: 110 KB
Volume: 28
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-005-5085-4

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The patient to be discussed today is an 8 1 ⁄2-year-old girl. She was referred to us in February 1994 when 4 years old because of recurrent severe headaches, paraesthesias of the extremities, erythromelalgia, abdominal pain, and a platelet count of between 1,300 and 1,500 × 10 9 /L. Physical examina