A new mutation in COG7 extends the spectrum of COG subunit deficiencies

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

Xiaohua Wu, Richard Steet, Ognian Bohorov et al. · Nature Medicine · 2004 · 298 citations

Life Sciences, Genetics, Molecular Genetics +10

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

J. Jaeken, H.G. van Eijk, C. Van Der Heul et al. · Clinica Chimica Acta · 1984 · 276 citations

Life Sciences, Genetics, Molecular Genetics +13

Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis

Suzan Wopereis, Stephanie Grünewald, Éva Morava et al. · Clinical Chemistry · 2003 · 142 citations

Life Sciences, Biochemistry, Molecular Biology +17

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia

Luisa Sturiale, Rita Barone, Agata Fiumara et al. · Glycobiology · 2005 · 116 citations

Life Sciences, Biochemistry, Molecular Biology +17

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

Éva Morava, Renate Zeevaert, Eckhard Korsch et al. · European Journal of Human Genetics · 2007 · 103 citations

Medicine, Genetics, Molecular Genetics +12