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Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications.

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G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital abnormalities. However, here we describe two boys of Pakistani origin who were found to have G6PC3 deficiency due to c.130 C>T mutation, but who have clinical

Chemical and biochemical changes in subcellular fractions of guinea pig liver during infection with Coxiella burneti.

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Livers of uninfected guinea pigs and of guinea pigs infected with Coxiella burneti were fractionated into smooth endoplasmic reticulum, rough endoplasmic reticulum (RER), pellet, and cell sap fractions. The ribonucleic acid (RNA) and protein of each fraction were determined, and the phosphorylase,

Glucose metabolism and hypoglycaemia in SIDS.

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Once a child is born its survival depends on the maturation of the blood glucose homeostatic control mechanisms. When this fails or where there is an inborn error of metabolism the infant is susceptible to potentially fatal hypoglycaemic episodes. A variety of environmental stresses, either singly

Lipid peroxidation caused by hyperthermic perfusion of rat liver.

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The data presented support the premise that hyperthermia-induced hepatocellular injury is the end result of lipid peroxidation. Evidence for lipid peroxidation is the formation of diene conjugates and the decrease in microsomal P450 and glucose-6-phosphatase activity during hyperthermic liver

A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease.

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Type IV glycogenosis is due to branching enzyme deficiency and is usually manifested clinically by progressive liver disease with cirrhosis and hepatic failure between the second and fourth years of life. We describe a 5-year-old boy who, following an acute febrile illness at 2 years of age, was

Umbelliferone β-D-galactopyranoside from Aegle marmelos (L.) corr. an ethnomedicinal plant with antidiabetic, antihyperlipidemic and antioxidative activity.

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BACKGROUND Aegle marmelos (L.) Corr. (Rutaceae), commonly known as bael, is used to treat fevers, abdomen pain, palpitation of the heart, urinary troubles, melancholia, anorexia, dyspepsia, diabetes and diarrhea in Indian traditional systems of medicine. The object of the present study was to

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