메뉴 건너뛰기




Volumn 39, Issue 5, 2016, Pages 713-723

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

(31)  Morava, Eva a,b   Tiemes, Vera c   Thiel, Christian d   Seta, Nathalie e   de Lonlay, Pascale f   de Klerk, Hans g   Mulder, Margot h   Rubio Gozalbo, Estela i   Visser, Gepke j   van Hasselt, Peter j   Horovitz, Dafne D G k   de Souza, Carolina Fischinger Moura k   Schwartz, Ida V D k   Green, Andrew l   Al Owain, Mohammed m   Uziel, Graciella n   Sigaudy, Sabine o   Chabrol, Brigitte o   van Spronsen, Franc Jan p   Steinert, Martin q   more..


Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; ANTITHROMBIN III; BLOOD CLOTTING FACTOR 9; CORTICOTROPIN; GLUCOSE; HYDROCORTISONE; IMMUNOGLOBULIN G; LAMOTRIGINE; MELATONIN; OCTREOTIDE; THYROID HORMONE; VALPROIC ACID; VIGABATRIN; ALG6 PROTEIN, HUMAN; GLUCOSYLTRANSFERASE; MEMBRANE PROTEIN;

EID: 84973630047     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-016-9945-x     Document Type: Article
Times cited : (35)

References (12)
  • 1
    • 77950838871 scopus 로고    scopus 로고
    • A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
    • PID: 20398363
    • Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J (2010) A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis 5:7
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 7
    • Al-Owain, M.1    Mohamed, S.2    Kaya, N.3    Zagal, A.4    Matthijs, G.5    Jaeken, J.6
  • 4
    • 84856249717 scopus 로고    scopus 로고
    • Frequency determination of α-1,3 glucosyltransferase p.Y131H and p.F304S polymorphisms in the croatian population revealed five novel single nucleotide polymorphisms in the hALG6 gene
    • COI: 1:CAS:528:DC%2BC38XhsVWgsro%3D
    • Goreta SS, Dabelic S, Pavlinic D, Lauc G, Dumic J (2012) Frequency determination of α-1,3 glucosyltransferase p.Y131H and p.F304S polymorphisms in the croatian population revealed five novel single nucleotide polymorphisms in the hALG6 gene. Genet Test Mol Biomark 16:50–53
    • (2012) Genet Test Mol Biomark , vol.16 , pp. 50-53
    • Goreta, S.S.1    Dabelic, S.2    Pavlinic, D.3    Lauc, G.4    Dumic, J.5
  • 5
    • 84876803656 scopus 로고    scopus 로고
    • Congenital disorder of glycosylation type Ic: report of a Japanese case
    • PID: 23044053
    • Ichikawa K, Kadoya M, Wada Y, Okamoto N (2013) Congenital disorder of glycosylation type Ic: report of a Japanese case. Brain Dev 35:586–589
    • (2013) Brain Dev , vol.35 , pp. 586-589
    • Ichikawa, K.1    Kadoya, M.2    Wada, Y.3    Okamoto, N.4
  • 6
    • 84944150163 scopus 로고    scopus 로고
    • Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation
    • Jaeken J, Lefeber D, Matthijs G (2015) Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation. Eur J Hum Genet 23. doi: 10.1038/ejhg.2014.146
    • (2015) Eur J Hum Genet , pp. 23
    • Jaeken, J.1    Lefeber, D.2    Matthijs, G.3
  • 7
    • 79961169660 scopus 로고    scopus 로고
    • How to find and diagnose a CDG due to defective N-glycosylation
    • PID: 21739167
    • Lefeber DJ, Morava E, Jaeken J (2011) How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis 34:849–852
    • (2011) J Inherit Metab Dis , vol.34 , pp. 849-852
    • Lefeber, D.J.1    Morava, E.2    Jaeken, J.3
  • 8
    • 79955125973 scopus 로고    scopus 로고
    • Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
    • COI: 1:CAS:528:DC%2BC3MXltFeksLs%3D, PID: 21334936
    • Miller BS, Freeze HH, Hoffmann GF, Sarafoglou K (2011) Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Mol Genet Metab 103:101–103
    • (2011) Mol Genet Metab , vol.103 , pp. 101-103
    • Miller, B.S.1    Freeze, H.H.2    Hoffmann, G.F.3    Sarafoglou, K.4
  • 9
    • 84904111497 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation: new defects and still counting
    • COI: 1:CAS:528:DC%2BC2cXosVWqurs%3D, PID: 24831587
    • Scott K, Gadomski T, Kozicz T, Morava E (2014) Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis 37:609–617
    • (2014) J Inherit Metab Dis , vol.37 , pp. 609-617
    • Scott, K.1    Gadomski, T.2    Kozicz, T.3    Morava, E.4
  • 10
    • 0034843229 scopus 로고    scopus 로고
    • The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic
    • COI: 1:CAS:528:DC%2BD3MXntVKhsbg%3D, PID: 11558905
    • Vuillaumier-Barrot S, Le Bizec C, Durand G, Seta N (2001) The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic. J Hum Genet 46:547–548
    • (2001) J Hum Genet , vol.46 , pp. 547-548
    • Vuillaumier-Barrot, S.1    Le Bizec, C.2    Durand, G.3    Seta, N.4
  • 11
    • 0033636903 scopus 로고    scopus 로고
    • Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation
    • COI: 1:CAS:528:DC%2BD3MXhsVKruw%3D%3D, PID: 11106564
    • Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH (2000) Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. Am J Pathol 157:1917–1925
    • (2000) Am J Pathol , vol.157 , pp. 1917-1925
    • Westphal, V.1    Murch, S.2    Kim, S.3    Srikrishna, G.4    Winchester, B.5    Day, R.6    Freeze, H.H.7
  • 12
    • 2142804719 scopus 로고    scopus 로고
    • Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic
    • PID: 14517965
    • Westphal V, Xiao M, Kwok PY, Freeze HH (2003) Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Hum Mut 22:420–421
    • (2003) Hum Mut , vol.22 , pp. 420-421
    • Westphal, V.1    Xiao, M.2    Kwok, P.Y.3    Freeze, H.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.