Mao-Shan Wang

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A boy, aged 7 months, of consanguineous parents presented with an acute onset of vomiting, fever, nonketotic hypoglycemia and acidosis and died from cardiac arrest after ventricular fibrillation. He had hepatomegaly and echocardiographically a non-obstructive cardiomyopathy. Autopsy was not allowed. After birth the child had suffered from a severe(More)
This report presents the first case where an infant with tetrahydrobiopterin deficiency has been identified by screening of newborns with hyperphenylalaninemia for tetrahydrobiopterin deficiency. Therapy with L-Dopa, 5-hydroxytryptophan, Carbidopa and tetrahydrobiopterin was started at the age of seven weeks while the child received a normal diet. At that(More)
AIM To study the effects of some bioflavonoids on the gossypol-induced hypokalemia. METHODS The 11beta-hydroxysteroid dehydrogenase (11beta-OHSD) protein was prepared from guinea pig kidney. The activity of 11beta-OHSD with NAD as the coenzyme was measured by HPLC. The drug interaction was analysed by isobolographic method. RESULTS The 11beta-OHSD can(More)
Giant congenital melanocytic nevi are rare, with an estimated incidence of approximately 1 in 20,000 live births. They increase the lifetime risk for malignant melanoma and neurological deficits, including leptomeningeal melanocytosis and epilepsy. Recently, we encountered two patients in whom giant congenital melanocytic nevi were noted at birth. Case 1(More)
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