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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 1/2012

01-01-2012 | Editorial

Disorders of the degradation of branched chain amino acids: What is new in clinics and laboratories?

Author: Jörn Oliver Sass

Published in: Journal of Inherited Metabolic Disease | Issue 1/2012

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Excerpt

This issue of the Journal of Inherited Metabolic Diseases has special focus on genetic disorders of the catabolism of the branched chain amino acids leucine, isoleucine and valine. These conditions comprise classic organic acidurias such as propionic acidemia, isovaleric acidemia and methylmalonic acidemias as well as several less known inborn errors of metabolism. Most of the articles are based on key presentations of the 24th Annual Meeting of the German “Arbeitsgemeinschaft für pädiatrische Stoffwechselstörungen” (APS) held in Fulda in 2010. Abstracts of the 28 oral and 17 poster presentations at that meeting are available in Monatsschr Kinderheilkd 2010;158;293–304 [doi:10.​1007/​s00112-010-2181-9]. …
Metadata
Title
Disorders of the degradation of branched chain amino acids: What is new in clinics and laboratories?
Author
Jörn Oliver Sass
Publication date
01-01-2012
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 1/2012
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-011-9420-7

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Journal of Inherited Metabolic Disease 1/2012 Go to the issue

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Putting a value on the avoidance of false positive results when screening for inherited metabolic disease in the newborn

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