A new variant of the carbohydrate deficient glycoproteins syndrome
| Autor: | Jaak Jaeken, J. Kint, H. Stibler, Vincent Ramaekers |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Galactosemias
Biology Genetics Humans Evoked Potentials Genetics (clinical) Glycoproteins chemistry.chemical_classification Electromyography Isoelectric focusing Transferrin Infant Hexosamines New variant Carbohydrate Magnetic Resonance Imaging Phenotype Human genetics Liver chemistry Biochemistry Sialic Acids Female Isoelectric Focusing Glycoprotein Mannose Liver pathology Carbohydrate Metabolism Inborn Errors |
| Zdroj: | Journal of Inherited Metabolic Disease. 14:385-388 |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/bf01811710 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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