Variants of citrullinaemia.

Variants of citrullinaemia.

Severe neonatal citrullinaemia.

Among the small number of cases of citrullin-aemia so far described, the range of clinical severity is wide (Wick et al., 1973; Scott-Emuakpor, Higgins, and Kohrman, 1972). The 5 acutely ill newbom babies so far described with this disease have all died despite energetic treatment (Wick et al., 1973; Okken, Van der Blij, and Hommes, 1973). The patient described here was investigated from birth ...

Citrullinaemia with rapidly fatal neonatal course.

a deficiency of argininosuccinate synthetase in liver and brain developed rapidly increasing apathy, respiratory insufficiency, and convulsions from the fourth day of life, and died on the seventh day. There was a profound derangement of amino acid concentrations in blood, CSF, and urine, with very high citrulline levels. This patient differs from other cases reported previously, both in her fu...

Liver Transplantation in an Adult with Citrullinaemia Type 2

Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas Type 2 disease is adult onset. We report the outcome of a patient with citrullinemia Type 2 who received a liver transplant at our center and the implications of this diagnosis in liver transplantation.

Variants of Mixtures: Information Properties and Applications

In recent years, we have studied information properties of various types of mixtures of probability distributions and introduced a new type, which includes previously known mixtures as special cases. These studies are disseminated in different fields: reliability engineering, econometrics, operations research, probability, the information theory, and data mining. This paper presents a holistic ...