Concepedia

Diagnosis of Congenital Disorders of Glycosylation by Capillary Zone Electrophoresis of Serum Transferrin

Hubert Carchon, R Chevigné, Jean‐Bernard Falmagne, Jaak Jaeken

Clinical Chemistry · 2004 · 99 citations · 23 references

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Abstract

All patients with abnormal IEF results and confirmed CDG were identified by CZE; thus, this method can be used as a diagnostic alternative to IEF in a manner suitable for automation. Because whole serum is analyzed, it should be kept in mind that CZE profiles can show substances other than Tf.

References

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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 · 273 citations

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Micro Anion Exchange Chromatography of Carbohydrate‐Deficient Transferrin in Serum in Relation to Alcohol Consumption (Swedish Patent8400587–5)

Helena Stibler, Stefan Borg, M. Joustra · Alcoholism Clinical and Experimental Research · 1986 · 263 citations

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Jaak Jaeken, Harry Schachter, Hubert Carchon et al. · Archives of Disease in Childhood · 1994 · 191 citations · Full text

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Isoelectric focusing and electrophoresis of the CSF proteins in tremor of different origins

Helena Stibler, K.G. Kjellin · Journal of the Neurological Sciences · 1976 · 114 citations

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