Article
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.
Nutrients - 29 Oct 2020
Pinto Alex, Ashmore Catherine, Batzios Spyros, Daly Anne, Dawson Charlotte, Dixon Marjorie, Evans Sharon, Green Diane, Gribben Joanna, Hunjan Inderdip, Jameson Elisabeth, Newby Camille, Pierre Germaine, Rajwal Sanjay, Robertson Louise, Santra Si, Sharrard Mark, Vara Roshni, White Lucy, Wilcox Gisela, Yilmaz Ozlem, MacDonald Anita
Abstract excerpt
BACKGROUND: Little is known about the optimal dietary treatment for citrin deficiency. Our aim is to describe the management of UK citrin deficiency patients. METHODS: A longitudinal retrospective review was performed. Data were collected from medical records on presenting signs and symptoms, dietary management and clinical outcome. RESULTS: data were collected on 32 patients from 21 families. 50% were females...
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