An early-onset neuronopathic form of acid sphingomyelinase deficiency: A SMPD1 p.C133Y mutation in the saposin domain of acid sphingomyelinase

Shozo Ota, Atsuko Noguchi, Daiki Kondo, Yoko Nakajima, Tetsuya Ito, Hirokazu Arai, Tsutomu Takahashi

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