Publication: Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome
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Aksu Uzunhan T., UYANIK B., Ersoy M., Turkmenoglu Y., -Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome-, ACTA NEUROLOGICA BELGICA, 2022