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...

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Detalles Bibliográficos
Autores principales: Henderson, Howard, Leisegang, Felicity, Brown, Ruth, Eley, Brian
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2002
Materias:
Research Article
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

Internet

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

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