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Volumn 34, Issue 1, 1997, Pages 73-76

Carbohydrate deficient glycoprotein (CDG) syndrome type I

Author keywords

Carbohydrate deficient glycoprotein syndrome

Indexed keywords

GLYCAN; GLYCOPROTEIN; LYSOSOME ENZYME; MEMBRANE PROTEIN; MUTASE;

EID: 0031019482     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (78)

References (14)
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    • Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, et al. Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 1980;14:179.
    • (1980) Pediatr Res , vol.14 , pp. 179
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  • 2
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    • Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
    • Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995;377:318-20.
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  • 3
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    • The carbohydrate-deficient glycoprotein syndrome: A new inherited multisystemic disease with severe nervous system involvement
    • monograph
    • Jaeken J, Stibler H, Hagberg B. The carbohydrate-deficient glycoprotein syndrome: a new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr Scand Suppl 1991;375:monograph.
    • (1991) Acta Paediatr Scand Suppl , vol.375
    • Jaeken, J.1    Stibler, H.2    Hagberg, B.3
  • 4
    • 0027485958 scopus 로고
    • The carbohydrate-deficient glycoprotein syndromes: An overview
    • Jaeken J, Carchon H. The carbohydrate-deficient glycoprotein syndromes: an overview. J Inherited Metabol Dis 1993;16:813-20.
    • (1993) J Inherited Metabol Dis , vol.16 , pp. 813-820
    • Jaeken, J.1    Carchon, H.2
  • 5
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    • The carbohydrate-deficient glycoprotein syndromes: Pre-Golgi and Golgi disorders?
    • Jaeken J, Carchon H, Stibler H. The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology 1993;3:423-8.
    • (1993) Glycobiology , vol.3 , pp. 423-428
    • Jaeken, J.1    Carchon, H.2    Stibler, H.3
  • 7
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    • Finnish type nephrotic syndrome: An unknown phenotype of carbohydrate deficient glycoprotein syndrome
    • Lancaster: Kluwer Academic Publishers
    • van der Knaap MS, Wevers RA, van Wijk A, Jakobs C. Finnish type nephrotic syndrome: an unknown phenotype of carbohydrate deficient glycoprotein syndrome. Abstracts of the 32nd SSIEM annual symposium. Lancaster: Kluwer Academic Publishers, 1994:207.
    • (1994) Abstracts of the 32nd SSIEM Annual Symposium , pp. 207
    • Van Der Knaap, M.S.1    Wevers, R.A.2    Van Wijk, A.3    Jakobs, C.4
  • 8
    • 0029047141 scopus 로고
    • Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay
    • Hutchesson ACJ, Gray RGF, Spencer DA, Keir G. Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay. Arch Dis Child 1995;72:445-6.
    • (1995) Arch Dis Child , vol.72 , pp. 445-446
    • Hutchesson, A.C.J.1    Gray, R.G.F.2    Spencer, D.A.3    Keir, G.4
  • 9
    • 0028022651 scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome with previously unreported features
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    • (1994) Acta Paediair , vol.83 , pp. 892-896
    • Eyskens, F.1    Ceuterick, C.2    Martin, J.J.3    Janssens, G.4    Jaeken, J.5
  • 10
    • 0027222950 scopus 로고
    • A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome
    • Van Geet C, Jaeken J. A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. Pediatr Res 1993;33:540-1.
    • (1993) Pediatr Res , vol.33 , pp. 540-541
    • Van Geet, C.1    Jaeken, J.2
  • 11
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    • Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence
    • de Zegher F, Jaeken J. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. Pediatr Res 1995;37:395-401.
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    • De Zegher, F.1    Jaeken, J.2
  • 12
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    • Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome
    • Kristiansson B, Stibler H, Wide L. Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. Acta Paediatr 1995;84:655-60.
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  • 13
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    • Gu J, Wada Y. Aberrant expressions of decorin and biglycan genes in the carbohydrate-deficient glycoprotein syndrome. J Biochem 1995;117:1276-9.
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  • 14
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    • Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984;144:245-7.
    • (1984) Clin Chim Acta , vol.144 , pp. 245-247
    • Jaeken, J.1    Van Eijk, H.G.2    Van Der Heul, C.3    Corbeel, L.4    Eeckels, R.5    Eggermont, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.