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Volumn 27, Issue 1, 1998, Pages 43-45

Carbohydrate-deficient glycoprotein syndrome type I: A new cause of dysostosis multiplex

Author keywords

Bone phosphomannomutase deficiency; Carbohydrate deficient glycoprotein syndrome type I dysostosis multiplex

Indexed keywords

ARTICLE; BONE MALFORMATION; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DIFFERENTIAL DIAGNOSIS; HUMAN; HURLER SYNDROME; INFANT; MALE; OSTEOPENIA; PRIORITY JOURNAL;

EID: 0031919025     PISSN: 03642348     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002560050335     Document Type: Article
Times cited : (21)

References (11)
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    • Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, 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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    • Jaeken J, Carchon H. The carbohydrate-deficient glycoprotein syndromes: an overview. J Inherit Metab Dis 1993; 16:813-820.
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    • Jaeken, J.1    Carchon, H.2
  • 3
    • 0029585865 scopus 로고
    • 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; 377:318-320.
    • (1995) FEBS Lett , vol.377 , pp. 318-320
    • Van Schaftingen, E.1    Jaeken, J.2
  • 4
    • 0001822246 scopus 로고    scopus 로고
    • Phosphomannomutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome type I
    • Jaeken J, Besley G, Brist N et al. Phosphomannomutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome type I. J Inherit Metab Dis 1996; 19 [Suppl 1]:6.
    • (1996) J Inherit Metab Dis , vol.19 , Issue.1 SUPPL. , pp. 6
    • Jaeken, J.1    Besley, G.2    Brist, N.3
  • 5
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    • Early manifestations of the carbohydrate-deficient glycoprotein syndrome
    • Petersen MB, Brostrom K, Stibler H, Skovby F. Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J Pediatr 1993; 122:66-70.
    • (1993) J Pediatr , vol.122 , pp. 66-70
    • Petersen, M.B.1    Brostrom, K.2    Stibler, H.3    Skovby, F.4
  • 6
    • 0029027206 scopus 로고
    • Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome
    • Holzbach U, Hanefed F, Helms G, Hänicke W, Frahm J. Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome. Acta Paediatr 1995; 84:781-786.
    • (1995) Acta Paediatr , vol.84 , pp. 781-786
    • Holzbach, U.1    Hanefed, F.2    Helms, G.3    Hänicke, W.4    Frahm, J.5
  • 7
    • 0028022651 scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome with previously unreported features
    • Eyskens F, Ceuterick C, Martin JJ, Janssens G, Jaeken J. Carbohydrate-deficient glycoprotein syndrome with previously unreported features. Acta Paediatr 1994; 83:892-896.
    • (1994) Acta Paediatr , vol.83 , pp. 892-896
    • Eyskens, F.1    Ceuterick, C.2    Martin, J.J.3    Janssens, G.4    Jaeken, J.5
  • 8
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    • Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome
    • Clayton PT, Winchester BG, Keir G. Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 1992; 15:857-861.
    • (1992) J Inherit Metab Dis , vol.15 , pp. 857-861
    • Clayton, P.T.1    Winchester, B.G.2    Keir, G.3
  • 9
    • 0026268002 scopus 로고
    • The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement
    • 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; 375:5-71.
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  • 11
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    • Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome
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    • (1991) Acta Paediatr Scand Suppl , vol.37 , pp. 55-62
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.