Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders.


Respiratory failure is a well-documented potential presentation of inherited isolated remethylation disorders (IRDs). It appears to be a combination of both central and peripheral neuropathy and has previously often been considered to herald an irreversible neurological decline. We present three patients, one with methionine synthase (cblG) and two with… (More)
DOI: 10.1007/8904_2014_319


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