柳叶刀·Neurology-2012-May

柳叶刀_Neurology-2012-May.pdfReview Neurologyofinheritedglycosylationdisorders Hudson HFreeze,ErikA Eklund, Bobby G NgMarcCPatterson Congenital disorders of glycosylation comprise most of the nearlygenetic disorders known to be caused by Lancet Neurol 2012; 11: 45366 impaired synthesis of glycoconjugates.Review of the chains is prescribed, but, as with all glycosylation, it Lipid-bearing glycans is not template driven.Glycosphingolipids link glucose to ceramidef Essentially, all proteins(except albumin) that travel galactose is also added, lactosylceramide is formed.Review Facial dys- InvertedSkeletalFailureLiver Renal IchthyosisCoagu-RecurrentCardio- Deafness Endocrin- Hypogly-PLE or ssyo nipples defects dysfunction/pathology or other lopathy infection myopathy opathy or caemia intestinal or thrive raised ALT skin or low micropenis dysfunction lipodys- disorde
———— 文字由OCR识别(未校验)，可能存在错字；请以原始完整版为准。