Tag: Metabolic diseases
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The Malformed Infant and Child: An Illustrated Guide (1983)
The Malformed Infant and Child: An Illustrated Guide (1983) is one of the finest medical books ever written. It is as unique and relevant today as it was when it was first published more than 35 years ago. The book contains monographs with exquisitely accurate and informative drawings of various congenital malformations including environmental (toxic)…
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When to suspect an inherited metabolic disease
Here are seven cardinal clues to the presence of an inherited metabolic disease (“inborn error of metabolism”): Normal pregnancy and birth, but the infant begins to deteriorate after an asymptomatic interval (usually after the first 24 hours of life) Symptoms are precipitated or exacerbated by changes in metabolic state or dietary habits: feeding, starvation, dietary changes, or exertion.…