Journal article

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Sabine Fischer, Martina Huemer, Matthias Baumgartner, Federica Deodato, Diana Ballhausen, Avihu Boneh, Alberto B Burlina, Roberto Cerone, Paula Garcia, Guelden Goekcay, Stephanie Gruenewald, Johannes Haeberle, Jaak Jaeken, David Ketteridge, Martin Lindner, Hanna Mandel, Diego Martinelli, Esmeralda G Martins, Karl O Schwab, Sarah C Gruenert Show all

JOURNAL OF INHERITED METABOLIC DISEASE | WILEY | Published : 2014

Abstract

UNLABELLED: The cblC defect is the most common inborn error of vitamin B12 metabolism. Despite therapeutic measures, the long-term outcome is often unsatisfactory. This retrospective multicentre study evaluates clinical, biochemical and genetic findings in 88 cblC patients. The questionnaire designed for the study evaluates clinical and biochemical features at both initial presentation and during follow up. Also the development of severity scores allows investigation of individual disease load, statistical evaluation of parameters between the different age of presentation groups, as well as a search for correlations between clinical endpoints and potential modifying factors. RESULTS: No majo..

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Grants

Awarded by Swiss National Foundation


Awarded by Fondazione Pierfranco e Luisa Mariani


Funding Acknowledgements

BF and MB were supported by the Swiss National Foundation, grant numbers 3200AO-109219/1 and 320000-122568/1. CD-V was supported by the grant "CCM 2010: Costruzione di percorsi diagnostico-assistenziali per le malattie oggetto di screening neonatale allargato" from the Italian Ministry of Health and by the grant R-12-92 from the "Fondazione Pierfranco e Luisa Mariani". The clinical fellowship of DM was supported by the "Associazione la Vita e un Dono".