Outcome in tyrosinaemia type II.
نویسندگان
چکیده
منابع مشابه
Outcome 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 کاملOculocutaneous 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...
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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...
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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 کاملStatistical Evidences in Type-II Censored Data
In this article, we use a measure of expected true evidence for determine the required sample size in type-II censored experiments for obtaining statistical evidence in favor of one hypothesis about the exponential mean against another.
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1991
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.66.10.1249