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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 major differences were found between neonatal and early onset patients so that these groups were combined as an infantile\u2010onset group representing 88 % of all cases. Hypotonia, lethargy, feeding problems and developmental delay were predominant in this group, while late\u2010onset patients frequently presented with psychiatric\/behaviour problems and myelopathy. Plasma total homocysteine was higher and methionine lower in infantile\u2010onset patients. Plasma methionine levels correlated with \u201coverall impression\u201d as judged by treating physicians. Physician's impression of patient's well\u2010being correlated with assessed disease load. We confirmed the association between homozygosity for the c.271dupA mutation and infantile\u2010onset but not between homozygosity for c.394C&gt;T and late\u2010onset. Patients were treated with parenteral hydroxocobalamin, betaine, folate\/folinic acid and carnitine resulting in improvement of biochemical abnormalities, non\u2010neurological signs and mortality. However the long\u2010term neurological and ophthalmological outcome is not significantly influenced. In summary the survey points to the need for prospective studies in a large cohort using agreed treatment modalities and monitoring criteria.<\/jats:p>","DOI":"10.1007\/s10545-014-9687-6","type":"journal-article","created":{"date-parts":[[2014,3,5]],"date-time":"2014-03-05T15:28:16Z","timestamp":1394033296000},"page":"831-840","source":"Crossref","is-referenced-by-count":146,"title":["Clinical presentation and outcome in a series of 88 patients with the cblC defect"],"prefix":"10.1002","volume":"37","author":[{"given":"Sabine","family":"Fischer","sequence":"first","affiliation":[{"name":"University Children's Hospital Basel Spitalstrasse 33 Basel 4506 Switzerland"}]},{"given":"Martina","family":"Huemer","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases and Children's Research Center University Children's Hospital Z\u00fcrich Switzerland"},{"name":"Department of Pediatrics Landeskrankenhaus Bregenz Bregenz 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