we encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. this child was being fed with a low-protein diet when the skin disorder developed. a deficiency in plasma levels isoleucine, was confirmed. supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. we assume that in our patient the sk...

Portal vein thrombosis (PVT) is a common cause of portal hypertension in children. A majority of children with PVT of unknown etiology have functional Protein C deficiency or abnormally elevated levels of anti-cardiolipin antibodies. We report an 8 years old Indian girl with portal cavernoma due to hereditary Protein S deficiency. We documented familial deficiency of Protein S in 2 asymptomatic...

Coagulaon factor XIII gene, protein structure and funcon Coagulaon factor XIII (FXIII) is a tetrameric (FXIII- A2B2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. Congenital FXIII deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a fre...

Antithrombin (AT) is a glycoprotein produced by the liver and principal antagonist of active clotting proteases. A deficit in AT function leads to qualitative deficiency, challenging diagnose. Here we report that may travel physiosorbed on surface plasma extracellular vesicles (EVs), contributing form “EV-protein corona.” The corona enriched specific glycoforms, thus suggesting glycosylation pl...

Zinc is essential in the metabolic activities body including protein, DNA and RNA synthesis. It plays a role neurogenesis, maturation, migration of neurons synapse formation. high hippocampal which involved learning memory. Deficiency zinc during pregnancy has been related to many congenital abnormalities foetal nervous system. Furthermore insufficient levels children associated with lowered ab...

Deficiency of polyunsaturated fatty acids (PUFAs) is known to induce hepatic steatosis. However, it not clearly understood which type PUFA responsible for the worsening This study observed a marked accumulation triacylglycerol and cholesterol in acid desaturase 2 knockout (FADS2−/−) mice lacking both C18 ≥ C20 PUFAs that were fed PUFA-depleted diet. Hepatic was associated with enhanced sterol r...

?1-antitrypsin deficiency is characterised by the misfolding and intracellular polymerisation of mutant protein within endoplasmic reticulum (ER) hepatocytes. Small molecules that bind stabilise Z were identified via a DNA-encoded library screen. A subsequent structure based optimisation led to series highly potent, selective cellular active correctors.

The purpose of the study was to determine the relevance of protein S deficiency in HIV infected patients with ischaemic stroke. In total, 33 HIV positive patients with ischaemic stroke, previously described by us, were prospectively compared with control groups for occurrence of protein S deficiency. The control groups comprised an equal number of consecutive matched HIV positive and negative p...