SCOPUS 정보 검색 플랫폼

Volumn 165, Issue 3, 2006, Pages 203-204

CDG: A new case of a combined defect in the biosynthesis of N- and O-glycans

(9) Albahri, Ziad a Marklová, Eliška a,c Dědek, Petr a Hojdíková, Helena a Fiedler, Zdeněk a Lefeber, Dirk b Wevers, Ron A b Morava, Eva b Wopereis, Suzan b

a CHARLES UNIVERSITY (Czech Republic)

b RADBOUD UNIVERSITY MEDICAL CENTER (Netherlands)

c UNIVERSITY HOSPITAL HRADEC KRALOVE (Czech Republic)

Author keywords

Inborn errors of metabolism; N glycosylation; O glycosylation

Indexed keywords

ALPHA 1 ANTITRYPSIN; APOLIPOPROTEIN C3; GLYCAN DERIVATIVE; THYROXINE BINDING GLOBULIN; TRANSFERRIN;

ARTICLE; BIOCHEMISTRY; BIOSYNTHESIS; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; ECHOGRAPHY; GALACTOSEMIA; GLYCOSYLATION; HEREDITARY FRUCTOSE INTOLERANCE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTESTINE OBSTRUCTION; INTRAUTERINE GROWTH RETARDATION; ISOELECTRIC FOCUSING; MALE; MULTIPLE MALFORMATION SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL;

CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; GLYCOSYLATION; HUMANS; MALE; POLYSACCHARIDES;

EID: 32044462942 PISSN: 03406199 EISSN: None Source Type: Journal
DOI: 10.1007/s00431-005-0047-2 Document Type: Article

Times cited : (2)

References (5)

1
- 0038042511
- Congenital disorders of glycosylation (CDG): It's all in it!
- Jaeken J (2003) Congenital disorders of glycosylation (CDG): it's all in it! J Inherit Metab Dis 26:99-118
- (2003) J Inherit Metab Dis , vol.26 , pp. 99-118
- Jaeken, J.¹

2
- 17144402597
- Defective protein glycosylation in patients with cutis laxa syndrome
- Morava É, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grünewald S (2005) Defective protein glycosylation in patients with cutis laxa syndrome. Eur J Hum Genet 3(4):414-421
- (2005) Eur J Hum Genet , vol.3 , Issue.4 , pp. 414-421
- Morava, É.¹ Wopereis, S.² Coucke, P.³ Gillessen-Kaesbach, G.⁴ Voit, T.⁵ Smeitink, J.⁶ Wevers, R.⁷ Grünewald, S.⁸

3
- 0242331110
- Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis
- Wopereis S, Grünewald S, Morava É, Penzien JM, Briones P, García-Silva MT, Demacker PNM, Huijben KMLC, Wevers RA (2003) Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem 49(11):1839-1845
- (2003) Clin Chem , vol.49 , Issue.11 , pp. 1839-1845
- Wopereis, S.¹ Grünewald, S.² Morava, É.³ Penzien, J.M.⁴ Briones, P.⁵ García-Silva, M.T.⁶ Demacker, P.N.M.⁷ Huijben, K.M.L.C.⁸ Wevers, R.A.⁹

4
- 20444442445
- A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: The biochemical characteristics
- Wopereis S, Morava É, Grünewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KMLC, Wevers RA (2005) A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. Biochim Biophys Acta 1741(1-2):156-164
- (2005) Biochim Biophys Acta , vol.1741 , Issue.1-2 , pp. 156-164
- Wopereis, S.¹ Morava, É.² Grünewald, S.³ Mills, P.B.⁴ Winchester, B.G.⁵ Clayton, P.⁶ Coucke, P.⁷ Huijben, K.M.L.C.⁸ Wevers, R.A.⁹

5
- 2442696341
- Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
- Wu X, Street RA, Bohorov O, Bakker J, Newell J, Krieger M, Spaapen L, Kornfeld S, Freeze HH (2004) Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 10(5):518-523
- (2004) Nat Med , vol.10 , Issue.5 , pp. 518-523
- Wu, X.¹ Street, R.A.² Bohorov, O.³ Bakker, J.⁴ Newell, J.⁵ Krieger, M.⁶ Spaapen, L.⁷ Kornfeld, S.⁸ Freeze, H.H.⁹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.