Transient neonatal tyrosinemia: a frequent abnormality
نویسندگان
چکیده
منابع مشابه
Transient neonatal hyperthyrotrophinaemia: a serum abnormality due to transplacentally acquired antibody to thyroid stimulating hormone.
In a screening programme for neonatal hypothyroidism an otherwise healthy female infant was found to have a high concentration of thyroid stimulating hormone in a filter paper blood spot and in serum. A high concentration was also found in the maternal serum. Mother and baby were both biochemically euthyroid with normal serum thyroxine concentrations. The apparently high concentration of thyroi...
متن کاملtransient neonatal diabetes
sarah was a 22 year old woman who passing her first pregnancy. the pregnancy was unplanned and random and she did not know her last menstrual history. he was visited at home by a midwife community health. no important problem was found in his medical history but he was smoking 20 cigarettes daily . it was noteworthy that saeed ,his wife, had transient neonatal diabetes history. although sar...
متن کاملTransient neonatal Behcet's disease.
A term neonate with a transient form of Behcet's disease is described. The clinical and immunological features are detailed. As healing of the severe ulceration in this condition gives rise to scarring and cosmetic deformity recognition is important. Therapeutic intervention with corticosteroids is recommended after diagnosis.
متن کاملA Rapid Screening Test on Dried Blood for the Neonatal Diagnosis of Tyrosinemia Type I
BACKGROUND Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment st...
متن کاملTransient neonatal diabetes, a disorder of imprinting.
Transient neonatal diabetes (TND) is a rare but distinct type of diabetes. Classically, neonates present with growth retardation and diabetes in the first week of life. Apparent remission occurs by 3 months but there is a tendency for children to develop diabetes in later life. Evidence suggests it is the result of overexpression of an imprinted and paternally expressed gene/s within the TND cr...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 1998
ISSN: 0021-7557
DOI: 10.2223/jped.461