作者
Martina Huemer, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Henk Blom, Florian Gleich, Stefan Kölker, Viktor Kožich, Andrew A Morris, Burkhardt Seifert, D Sean Froese, Matthias R Baumgartner, Carlo Dionisi-Vici, C Alcalde Martin, M Baethmann, D Ballhausen, J Blasco-Alonso, N Boy, M Bueno, R Burgos Peláez, R Cerone, B Chabrol, KA Chapman, ML Couce, E Crushell, J Dalmau Serra, L Diogo, C Ficicioglu, MC García Jimenez, MT García Silva, AM Gaspar, M Gautschi, D González-Lamuño, S Gouveia, S Grünewald, C Hendriksz, MCH Janssen, P Jesina, J Koch, V Konstantopoulou, C Lavigne, AM Lund, EG Martins, S Meavilla Olivas, K Mention, F Mochel, H Mundy, E Murphy, S Paquay, C Pedrón-Giner, MA Ruiz Gómez, S Santra, M Schiff, IV Schwartz, S Scholl-Bürgi, A Servais, A Skouma, C Tran, I Vives Piñera, J Walter, J Weisfeld-Adams
发表日期
2018/9/3
期刊
Journal of inherited metabolic disease
页码范围
1-19
出版商
Springer Netherlands
简介
Aim
To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E‐HOD) international web‐based registry.
Results
This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E‐HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy‐five percent of pre‐clinically diagnosed patients with …
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M Huemer, D Diodato, D Martinelli, G Olivieri, H Blom… - Journal of inherited metabolic disease, 2019
