An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A <i>SMPD1</i> p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase
Shōzō Ōta(Akita Red Cross Hospital), Tsutomu Takahashi(National Center of Neurology and Psychiatry)
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