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Inherited Disorders of Carbohydrate Metabolism - Glycogen Storage Diseases and Deficiencies of Monosaccharide Metabolism / UNI-MED Science (PDF)

(Sprache: Englisch)
 
 
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The inherited disorders of carbohydrate metabolism are rare and belong to what are termed orphan diseases. With the exception of galactosaemia I, none of these diseases is among the target group of extended neonatal screening. Affected individuals with such...
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