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01-01-2017 | Editorial

Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management

Author: Eva Morava

Published in: Journal of Inherited Metabolic Disease | Issue 1/2017

Excerpt

Inborn errors of metabolism of homocysteine, folate, cobalamin, and methylation belong to the most intriguing metabolic disorders and link metabolism to organ- and neurodevelopment and regulation of gene expression on levels we are just beginning to understand. The European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) consortium (for more information, see http://www.e-hod.org) created three excellent state-of-the-art recommendation papers reviewing clinical spectrum, diagnosis, and treatment of this group of disorders (see Huemer et al., 2016, Barić et al., 2016, and Morris et al., 2016 this issue). …

Barić I et al. (2016) JIMD 1. doi:10.1007/s10545-016-9972-7

Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom H (2015) J Inherit Metab Dis 38(1007–19):2015

Huemer M et al. (2016) JIMD 1. doi:10.1007/s10545-016-9991-4

Morava E, Rahman S, Peters V, Baumgartner M, Patterson M, Zschocke J (2015) J Inherit Metab Dis 38:1003–6CrossRefPubMed

Morris A et al. (2016) JIMD 1. doi:10.1007/s10545-016-9979-0

Title: Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management
Author: Eva Morava
Publication date: 01-01-2017
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 1/2017
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-016-9998-x

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