Enzyme Defects and Immune Dysfunction

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Hypothyroidism due to enzyme defects.

Defects in thyroid hormone production, transport and utilization are classified. Particular attention is given to inherited intrathyroidal defects in hormone synthesis which impair thyroid function and lead to goitre formation and hypothyroidism. Anomalies in biosynthesis may also result from disease or drugs. Reference is made to the derangement of iodine metabolism that results from iodine de...

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Enzyme defects in hereditary porphyria.

Heme is an important prosthetic group for proteins concerned with energy metabolism. All cells in the body probably make heme, but nucleated erythroid and hepatic cells have been studied the most. Feedback control of heme formation differs in the red cells and in the liver. About eight enzymes have a place in the formation of heme. Defects in the enzyme pathways may be the result of genetic abn...

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ژورنال

عنوان ژورنال: Journal of Clinical Pathology

سال: 1980

ISSN: 0021-9746

DOI: 10.1136/jcp.33.7.704-c