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Volumn 24, Issue 2, 2004, Pages 114-116

The prenatal diagnosis of congenital disorders of glycosylation (CDG)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCAN; GLYCOPROTEIN; OLIGOSACCHARIDE; PHOSPHOMANNOMUTASE;

EID: 1542291044     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.815     Document Type: Note
Times cited : (25)

References (12)
  • 1
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    • Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
    • Aebi M, Helenius A, Schenk B, et al. 1999. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. Glycoconj J 16: 669-671.
    • (1999) Glycoconj J , vol.16 , pp. 669-671
    • Aebi, M.1    Helenius, A.2    Schenk, B.3
  • 2
    • 0035279221 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation: Genetic model systems lead the way
    • Aebi M, Hennet T. 2001. Congenital disorders of glycosylation: genetic model systems lead the way. Trends Cell Biol 11: 136-141.
    • (2001) Trends Cell Biol , vol.11 , pp. 136-141
    • Aebi, M.1    Hennet, T.2
  • 3
    • 0027457737 scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome: Normal glycosylation in the fetus
    • Clayton P, Winchester B, Di Tomaso E, Young E, Keir G, Rodeck C. 1993. Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet 341: 956.
    • (1993) Lancet , vol.341 , pp. 956
    • Clayton, P.1    Winchester, B.2    Di Tomaso, E.3    Young, E.4    Keir, G.5    Rodeck, C.6
  • 4
    • 0037301070 scopus 로고    scopus 로고
    • Glycosylation defects in inherited muscle disease
    • Hewitt JE, Grewal PK. 2003. Glycosylation defects in inherited muscle disease. Cell Mol Life Sci 60: 251-258.
    • (2003) Cell Mol Life Sci , vol.60 , pp. 251-258
    • Hewitt, J.E.1    Grewal, P.K.2
  • 5
    • 0035125320 scopus 로고    scopus 로고
    • High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-1a (phosphomannomutase deficiency)
    • Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G. 2001. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-1a (phosphomannomutase deficiency). Am J Hum Genet 68: 347-354.
    • (2001) Am J Hum Genet , vol.68 , pp. 347-354
    • Grünewald, S.1    Schollen, E.2    Van Schaftingen, E.3    Jaeken, J.4    Matthijs, G.5
  • 6
    • 0036840817 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation: A review
    • Grünewald S, Matthijs G, Jaeken J. 2002. Congenital disorders of glycosylation: a review. Pediatr Res 52: 618-624.
    • (2002) Pediatr Res , vol.52 , pp. 618-624
    • Grünewald, S.1    Matthijs, G.2    Jaeken, J.3
  • 7
    • 0036402747 scopus 로고    scopus 로고
    • Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency
    • Harms HK, Zimmer KP, Kumik K, Bertele-Harms RM, Weidinger S, Reiter K. 2002. Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. Acta Paediatr 91: 1065-1072.
    • (2002) Acta Paediatr , vol.91 , pp. 1065-1072
    • Harms, H.K.1    Zimmer, K.P.2    Kumik, K.3    Bertele-Harms, R.M.4    Weidinger, S.5    Reiter, K.6
  • 9
    • 0038042511 scopus 로고    scopus 로고
    • Komrower lecture. Congenital disorders of glycosylation (CDG): It's all in it!
    • Jaeken J. 2003. Komrower lecture. 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
  • 10
    • 0033736282 scopus 로고    scopus 로고
    • Mutations in PMM2 that cause congenital disorders of glycosylation, type 1a (CDG-1a)
    • Matthijs G, Schollen E, Bjursell C, et al. 2000. Mutations in PMM2 that cause congenital disorders of glycosylation, type 1a (CDG-1a). Hum Mutat 16: 386-394.
    • (2000) Hum Mutat , vol.16 , pp. 386-394
    • Matthijs, G.1    Schollen, E.2    Bjursell, C.3
  • 12
    • 0034082327 scopus 로고    scopus 로고
    • Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-1a (congenital disorders of glycosylation type 1a)
    • Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G. 2000. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-1a (congenital disorders of glycosylation type 1a). Eur J Hum Genet 8: 367-371.
    • (2000) Eur J Hum Genet , vol.8 , pp. 367-371
    • Schollen, E.1    Kjaergaard, S.2    Legius, E.3    Schwartz, M.4    Matthijs, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.