منابع مشابه
Oculocutaneous tyrosinaemia or tyrosinaemia type 2: a case report.
Oculo-cutaneous tyrosinaemia type II is an autosomal recessive disease due to an abnormality of tyrosine metabolism, probably because of a deficiency of cytoplasmic tyrosine aminotransferase. It presents as a varying association of focal palmoplantar keratosis, bilateral keratitis and mental retardation. Herein, we report an 8-year-old boy with palmoplantar hyperkeratosis with peripheral oozing...
متن کاملOutcome in tyrosinaemia type II.
Tyrosinaemia type II was diagnosed in a boy with failure to thrive and in his sister on neonatal screening. On diet the outcome, at 12 and 10 years respectively, has been excellent in respect of oculocutaneous sequelae, growth, and psychomotor development, contrasting with the generally unfavourable outcome in most reported cases.
متن کاملRecommendations for the management of tyrosinaemia type 1 Corinne
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are n...
متن کاملRecommendations for the management of tyrosinaemia type 1
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are n...
متن کاملa new type-ii fuzzy logic based controller for non-linear dynamical systems with application to 3-psp parallel robot
abstract type-ii fuzzy logic has shown its superiority over traditional fuzzy logic when dealing with uncertainty. type-ii fuzzy logic controllers are however newer and more promising approaches that have been recently applied to various fields due to their significant contribution especially when the noise (as an important instance of uncertainty) emerges. during the design of type- i fuz...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1998
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199811000-00051