A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

BACKGROUND: Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe. CASE PRESENTATION: After an uneventful...

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Detalles Bibliográficos
Autores principales: Fazeli, Walid, Kaczmarek, Sigrid, Kirschstein, Martin, Santer, René
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515929/
https://www.ncbi.nlm.nih.gov/pubmed/26215149
http://dx.doi.org/10.1186/s12876-015-0316-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515929/
https://www.ncbi.nlm.nih.gov/pubmed/26215149
http://dx.doi.org/10.1186/s12876-015-0316-0

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