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X-linked SA with ataxia is characterized by spinocerebellar ataxia in male patients that can develop as late as 45 years and is associated with anemia appearing in infancy due to a mutation in ATP-binding cassette transporter ABCB7 [30]
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The liver is the primary site of Met and Hcy metabolism, but recent studies suggest the gastrointestinal tissue (GIT) also plays a role
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