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The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa
BACKGROUND: The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region. METHODS: Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-pho...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2002
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC126267/ https://www.ncbi.nlm.nih.gov/pubmed/12350230 http://dx.doi.org/10.1186/1471-2431-2-7 |