Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation

[1] Haeuptle MA(2009)Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides Hum Mutat 30 1628-1641

[2] Hennet T(2010)A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report Orphanet J Rare Dis 5 7-23

[3] Al-Owain M(2013)ALG6-CDG in South Africa: genotype-phenotype description of five novel patients JIMD Rep 8 17-589

[4] Mohamed S(2013)Congenital disorder of glycosylation type Ic: report of a Japanese case Brain Dev 35 586-13205

[5] Kaya N(1998)Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase Proc Natl Acad Sci USA 95 13200-6987

[6] Zagal A(1999)A mutation in the human ortholog of the Proc Natl Acad Sci USA 96 6982-781

[7] Matthijs G(2000) ALG6 gene causes carbohydrate-deficient glycoprotein-syndrome type Ic Ann Neurol 47 776-62

[8] Jaeken J(2000)Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis Neuropediatrics 31 60-545

[9] Dercksen M(2000)Congenital disorder of glycosylation-Ic: case report and genetic defect Hum Genet 106 538-1925

[10] Crutchley AC(2000)Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic Am J Pathol 157 1917-223

[1] Haeuptle MA(2009)Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides Hum Mutat 30 1628-1641

[2] Hennet T(2010)A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report Orphanet J Rare Dis 5 7-23

[3] Al-Owain M(2013)ALG6-CDG in South Africa: genotype-phenotype description of five novel patients JIMD Rep 8 17-589

[4] Mohamed S(2013)Congenital disorder of glycosylation type Ic: report of a Japanese case Brain Dev 35 586-13205

[5] Kaya N(1998)Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase Proc Natl Acad Sci USA 95 13200-6987

[6] Zagal A(1999)A mutation in the human ortholog of the Proc Natl Acad Sci USA 96 6982-781

[7] Matthijs G(2000) ALG6 gene causes carbohydrate-deficient glycoprotein-syndrome type Ic Ann Neurol 47 776-62

[8] Jaeken J(2000)Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis Neuropediatrics 31 60-545

[9] Dercksen M(2000)Congenital disorder of glycosylation-Ic: case report and genetic defect Hum Genet 106 538-1925

[10] Crutchley AC(2000)Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic Am J Pathol 157 1917-223