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The first of these two unrelated children is a male patient presenting with large head circumference and hepatosplenomegaly

Nevertheless, as soon as homocysteine is exported out of the cell, it is oxidized to a disulfide with any thiol-containing compound (Bourdon and Blache, 2001)

Jaulmes, A

[34] PEP carboxykinase PEP carboxykinase is expressed in both the cytosol and mitochondria of hepatocytes, encoded by separate nuclear genes