How to find and diagnose a CDG due to defective N-glycosylation

被引：86

作者：

Lefeber, Dirk J. ^{[1
,2
]}

Morava, Eva ^{[1
,3
]}

Jaeken, Jaak ^{[4
]}

机构：

[1] Inst Genet & Metab Dis, Nijmegen, Netherlands

[2] Dept Neurol, Lab Genet Endocrine & Metab Dis, Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6525 ED Nijmegen, Netherlands

[4] Univ Ziekenhuis Gasthuisberg, Louvain, Belgium

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2011年 / 34卷 / 04期

关键词：

CONGENITAL DISORDERS; TRANSFERRIN; SERUM;

D O I：

10.1007/s10545-011-9370-0

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

[No abstract available]

引用

页码：849 / 852

页数：4

共 15 条

[1]

Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms [J].

Babovic-Vuksanovic, Dusica ;

O'Brien, John F. .

MOLECULAR DIAGNOSIS & THERAPY, 2007, 11 (05) :303-311

[2]

Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin [J].

Carchon, HA ;

Chevigné, R ;

Falmagne, JB ;

Jaeken, J .

CLINICAL CHEMISTRY, 2004, 50 (01) :101-111

[3]

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib [J].

de Lonlay, P. ;

Seta, N. .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2009, 1792 (09) :841-843

[4]

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II [J].

Guillard, Mailys ;

Morava, Eva ;

van Delft, Floris L. ;

Hague, Rosie ;

Koerner, Christian ;

Adamowicz, Maciej ;

Wevers, Ron A. ;

Lefeber, Dirk J. .

CLINICAL CHEMISTRY, 2011, 57 (04) :593-602

[5]

Helander A, 2001, CLIN CHEM, V47, P1225

[6]

SIALIC ACID-DEFICIENT SERUM AND CEREBROSPINAL-FLUID TRANSFERRIN IN A NEWLY RECOGNIZED GENETIC SYNDROME [J].

JAEKEN, J ;

VANEIJK, HG ;

VANDERHEUL, C ;

CORBEEL, L ;

EECKELS, R ;

EGGERMONT, E .

CLINICA CHIMICA ACTA, 1984, 144 (2-3) :245-247

[7]

FAMILIAL PSYCHOMOTOR RETARDATION WITH MARKEDLY FLUCTUATING SERUM PROLACTIN, FSH AND GH LEVELS, PARTIAL TBG-DEFICIENCY, INCREASED SERUM ARYLSULFATASE-A AND INCREASED CSF PROTEIN - NEW SYNDROME [J].

JAEKEN, J ;

VANDERSCHUERENLODEWEYCKX, M ;

CASAER, P ;

SNOECK, L ;

CORBEEL, L ;

EGGERMONT, E ;

EECKELS, R .

PEDIATRIC RESEARCH, 1980, 14 (02) :179-179

[8]

Congenital disorders of glycosylation [J].

Jaeken, Jaak .

YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS, 2010, 1214 :190-198

[9]

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies [J].

Lefeber, Dirk J. ;

Schoenberger, Johannes ;

Morava, Eva ;

Guillard, Mailys ;

Huyben, Karin M. ;

Verriip, Kiek ;

Grafakou, Olga ;

Evangelioi, Athanasios ;

Preijers, Frank W. ;

Manta, Panagiota ;

Yildiz, Jef ;

Gruenewald, Stephanie ;

Spilioti, Martha ;

van den Elzen, Christa ;

Klein, Dominique ;

Hess, Daniel ;

Ashida, Hisashi ;

Hofsteenge, Jan ;

Maeda, Yusuke ;

van den Heuvel, Lambert ;

Lammens, Martin ;

Lehle, Ludwig ;

Wevers, Ron A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (01) :76-86

[10]

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern [J].

Mohamed, M. ;

Guillard, M. ;

Wortmann, S. B. ;

Cirak, S. ;

Marklova, E. ;

Michelakakis, H. ;

Korsch, E. ;

Adamowicz, M. ;

Koletzko, B. ;

van Spronsen, F. J. ;

Niezen-Koning, K. E. ;

Matthijs, G. ;

Gardeitchik, T. ;

Kouwenberg, D. ;

Lim, B. Chan ;

Zeevaert, R. ;

Wevers, R. A. ;

Lefeber, D. J. ;

Morava, E. .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2011, 1812 (06) :691-698

← 1 2 →