Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Am J Hum Genet 74: 545–551, 2004.Kranz C , Denecke J , Lehle L , Sohlbach K , Jeske S , Meinhardt F , Rossi R , Gudowius S , Marquardt T . 2004 . Congenital disorder of glycosylation ...
但是,具体的检测要求可能会因实验室的要求而有所不同,建议在进行基因检测前咨询医生或实验室以获取准确的指导。 常染色体隐性遗传先天性糖基化障碍Iw型(Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive)基因检测中的家族史调查和遗传咨询 在进行常染色体隐性遗传先天性糖基化障碍Iw型基因检测之前,...
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. Ann Hum Genet 2007;71 (Pt 3):348-53.Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L (2007) Congenital disorder of glycosylation type Ia: searching for the origin of common ...
先天性糖基化障碍伴扩张型心肌病(Congenital Disorder of Glycosylation with Dilated Cardiomyopathy)基因检测结果中的致病性表示方法 在先天性糖基化障碍伴扩张型心肌病的基因检测结果中,致病性通常会以以下方式表示: 1. 确认致病基因突变:检测结果会指出患者体内存在特定基因的突变,该突变已被确认与先天性糖基化障碍伴...
Congenital Disorder of Glycosylation Type Id: Clinical Phenotype, Molecular Analysis, Prenatal Diagnosis, and Glycosylation of Fetal Proteins JONAS DENECKE, CHRISTIAN KRANZ, JUERGEN CH. VON KLEIST-RETZOW, KRISTIN BOSSE, PETER HERKENRATH, OTFRIED DEBUS, ERIK HARMS, AND THORSTEN MARQUARDT Department of...
Congenital disorders of glycosylation (CDGs) are group group of genetic defects in the assembly and processing pathway of protein glycosylation, which cause a wide range of multi system dysfunction. This paper describes the anesthetic management of 6 years old boy with CDG type I-x for upper ...
Increased Biosynthesis of Glycosphingolipids in Congenital Disorder of Glycosylation Ia (CDG-Ia) Fibroblasts GIUSY SALA, THIERRY DUPRÉ, NATHALIE SETA, PATRICE CODOGNO, AND RICCARDO GHIDONI San Paolo University Hospital, University of Milan [G.S., R.G.], Milano, Italy; INSERM U410, Neuro...
Eklund EA, Merbouh N, Ichikawa M, Nishikawa A, Clima JM, Dorman JA, Norberg T, Freeze HH (2005) Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. Glycobiology 15:1084–1093...
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If) We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and s... C Kranz,J Denecke,MA Lehrman,......
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A. 2005; 137 (1):22–26.Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA. 2005b. Clinical and molecular characterization of the first adult congenital...