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Diet therapy for neurometabolic disorder

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Identification of novel recessive IGFALS mutations and INSR variant in an obese Korean boy

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Neonatal case for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome from Pakistani consanguineous family

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The neuroprotective effect of p.G46E mutaion in the GBA gene which is predominant in Korean Gaucher disease

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The first Korean case report of peroxisomal D-bifunctional protein deficiency with novel HSD17B4 mutations