ISSN:
1546-1718
Source:
Nature Archives 1869 - 2009
Topics:
Biology
,
Medicine
Notes:
[Auszug] Primary systemic carnitine deficiency (SCD; OMIM 212140) is an autosomal recessive disorder characterized by progressive cardiomyopathy, skeletal myopathy, hypoglycaemia and hyperammonaemia. SCD has also been linked to sudden infant death syndrome. Membrane-physiological studies have suggested ...
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1038/5030
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