peroxisomal disorders/carbohydrate

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The carbohydrate-deficient glycoprotein syndromes: an overview.

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The carbohydrate-deficient glycoprotein (CDG) syndromes are a newly recognized family of diseases with autosomal recessive inheritance. The basic defects are probably in the glycosylation pathway (endoplasmic reticulum, Golgi apparatus or post-Golgi). In the present state of our knowledge the

[The Austrian Metabolic Register].

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The "Austrian Register for Metabolic Disorders" was founded in 1995 on the initiative of the "Work Group for Congenital Metabolic Disorders" within the Austrian Society for Pediatrics. It is designed as a clearinghouse for reporting and recording congenital metabolic disorders and aims to determine

Secondary alterations of human hepatocellular peroxisomes.

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The morphological and morphometric characteristics of peroxisomes in normal human liver and the peroxisomal alterations in the liver of patients with acquired or congenital non-peroxisomal diseases are reviewed. Secondary peroxisomal changes are observed in steatosis, hepatitis and cirrhosis induced

Inborn Errors of Metabolism (Metabolic Disorders).

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By their very nature, rare inborn errors of metabolism challenge the generation and application of evidence-based medicine. • On the basis of limited research evidence as well as consensus, newborn screening for select metabolic disorders, including phenylketonuria, medium-chain acyl CoA

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