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Alpha-I antitrypsin (AIAT) is an acute-phase protein that is produced in liver cells. AIAT deficiency is a hereditary disease which is defined by the hepatic production of an abnormal protein that can not be released into the plasma. This leads to deficiency of plasma AIAT and subsequently to an impaired protection against proteases, resulting in pulmonary(More)
A survey is given of literature reports on the effect of performance in offspring from 26 maternal PKU pregnancies treated prior to conception. The survey includes two women who were referred to us for genetic counselling because they had both given birth to microcephalic, mentally retarded children. The women were discovered to suffer from unrecognized(More)
BACKGROUND Alpha-1 antitrypsin (A1AT) deficiency, caused by the Z allele (p.E342K) and S allele (p.E264V) in the SERPINA1 gene, can induce liver and pulmonary disease. Different mechanisms appear to be responsible for the pathogenesis of these divergent disease expressions. The c.-1973T >C polymorphism located in the SERPINA1 promoter region is found more(More)
BACKGROUND The role of heterozygosity for alpha-1 antitrypsin (A1AT) alleles in patients with chronic hepatitis C virus (HCV) is unclear. There is limited evidence to suggest that there is an increased prevalence of heterozygous A1AT carriers in HCV, but it is unclear how this affects treatment success. AIM To investigate the (i) prevalence of A1AT(More)
Wilson's disease (WD) is a disorder of copper metabolism leading to copper accumulation in the liver and in extrahepatic organs, such as brain and cornea. We present a patient with liver disease who did not fulfil the biochemical criteria for WD. Mutational analysis was necessary to make the diagnosis and show a new mutation. Our case supports the use of(More)
Few studies have addressed the common issue of weight gain in children with acute lymphoblastic leukemia (ALL) during early phases of treatment, and even fewer have used the appropriate measure for weight fluctuation in children, BMI-for-age z-scores (BAZs). The purpose of this study is thus to measure the extent of the weight gain in BAZ during the 150(More)
In 3 patients, 2 men aged 51 and 40 years and a 50-year-old woman, with liver-function disorders due to excessive consumption of alcohol, the liver function deteriorated rapidly resulting in the patients' death. All 3 were found to be heterozygous for alpha1-antitrypsin (AT) deficiency. Alpha1-AT deficiency can lead to cirrhosis of the liver and pulmonary(More)
A 59-year-old man, treated with peginterferon alfa-2b and ribavirin because of a chronic Hepatitis C virus infection presented in the emergency department with acute epigastric pain. An acute pancreatitis, probably toxic, was diagnosed. A literature search confirmed that acute pancreatitis may develop as a result of treatment with (peg)interferon whether or(More)
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