Mesh : Brain / pathology Carbohydrate Metabolism, Inborn Errors / blood diagnosis pathology Child, Preschool Female Homozygote Humans Immunoglobulin G / blood Magnetic Resonance Imaging Male Mannosyltransferases / deficiency Psychomotor Disorders / diagnosis Sialoglycoproteins / blood Transferrin / biosynthesis Urogenital Abnormalities / diagnosis
来 源:
DOI:10.1007/s10545-005-0137-3
PDF(Sci-hub)