Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.

In contrast to the results from CSF, there does not seem to be an overall trend of low‐normal intensities for Patient 2. 4.3 Ceruloplasmin and copper concentrations Copper concentrations before, 11 days after and 33 days after acetylation therapy were 5.6, 3.8, 7.8 μmol/L, respectively.

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