Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings
Ikuko Sato‐Shirai, Erika Ogawa, Atsuko Arisaka, Hitoshi Osaka, Kei Murayama, Mari Kuwajima, Miyuki Watanabe, Keiko Ichimoto, Akira Ohtake, Satoko Kumada
Topics & Concepts
CysteamineValineInternal medicineMedicineProbandHyperintensityEndocrinologyPsychomotor learningMagnetic resonance imagingBiochemistryChemistryAmino acidCognitionPsychiatryGeneRadiologyMutationMetabolism and Genetic DisordersMitochondrial Function and PathologyBiomedical Research and Pathophysiology