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Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

Mendelian DisorderGenetic DisorderCerebrospinal FluidInherited Metabolic DiseaseGenetic EpidemiologyPathologyMedical GeneticsNeurologyCerebrospinal Fluid TransferrinSialic Acid-deficient SerumMedicineInborn Error Of ImmunityGenetic Syndrome