[Sphingolipid activator protein deficiency].
Suzuki
Y
Y
Clinical Research Center, International University of Health and Welfare.
D003937:Diagnosis, Differential; D049289:G(M2) Activator Protein; D020143:Gangliosidoses, GM2 / Q000235:genetics; D006023:Glycoproteins / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D009154:Mutation; D009422:Nervous System Diseases / Q000209:etiology; D011379:Prognosis; D011506:Proteins / Q000502:physiology; D049231:Saposins; D049128:Sphingolipid Activator Proteins; D013107:Sphingolipids / Q000378:metabolism*
D049289:G(M2) Activator Protein; D006023:Glycoproteins; C483345:PSAP protein, human; D011506:Proteins; D049231:Saposins; D049128:Sphingolipid Activator Proteins; D013107:Sphingolipids