Early manifestations of the carbohydrate-deficient glycoprotein syndrome

References

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	Year	Citations
Carbohydrate-Deficient Transferrin in Serum: a New Marker of Potentially Harmful Alcohol Consumption Reviewed Helena Stibler Clinical Chemistry Alcohol MisuseNew MarkerClinical ChemistryTransferrin AbnormalityHealth Sciences	1991	655
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?: 90 J. Jaeken, M Vanderschueren‐Lodeweyckx, Paul Casaer, Pediatric Research Csf ProteinMendelian DisorderAutoimmune DiseaseGenetic DisorderSerum Prolactin	1980	278
The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. J. Jaeken, Helena Stibler, Bengt Hagberg PubMed Neurological DisorderMedicineInherited Metabolic DiseaseGlycobiologyPathology	1991	156
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Helena Stibler, J Jaeken Archives of Disease in Childhood Adrenal GlandAutoimmune DiseaseMedicineSerum TransferrinInherited Metabolic Disease	1990	152
Biochemical Characteristics and Diagnosis of the Carbohydrate‐deficient Glycoprotein Syndrome Helena Stibler, Jaak Jaeken, B. Kristiansson Acta Paediatrica Human GrowthGlycobiologyPathologyPolysaccharideCarbohydrate‐deficient Glycoprotein Syndrome	1991	118
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Simon Horslen, Peter T. Clayton, Brian Harding, Archives of Disease in Childhood Developmental AnomalyGlycoprotein MetabolismDevelopmental BiologyGenetic DisorderGenetics	1991	87
Disialotransferrin developmental deficiency syndrome. B. Kristiansson, Mats Andersson, B. Tonnby, Archives of Disease in Childhood Down SyndromeDevelopmental AnomalyGlycoprotein MetabolismDevelopmental BiologyMendelian Disorder	1989	77
Clinical Presentation and Natural Course of the Carbohydrate‐deficient Glycoprotein Syndrome J. Jaeken, Bengt Hagberg, Petter Strømme Acta Paediatrica GlycobiologyPathologyCarbohydrate-protein InteractionClinical RecognitionGlycoproteomics	1991	66
Postmortem Findings in Two Patients with the Carbohydrate‐deficient Glycoprotein Syndrome Petter Strømme, Erik H. Strøm, A. Torvik Acta Paediatrica GlycoproteomicsMetabolic DisorderOphthalmologyDiabetesGlycobiology	1991	49
Diagnosis of the carbohydrate‐deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots Helena Stibler, Birgitta Cederberg Acta Paediatrica	1993	38

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