Literature DB >> 27896524

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

Eva Morava1,2.   

Abstract

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Year:  2017        PMID： 27896524     DOI： 10.1007/s10545-016-9998-x

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Quo vadis: the re-definition of "inborn metabolic diseases".

Authors:  Eva Morava; Shamima Rahman; Verena Peters; Matthias R Baumgartner; Marc Patterson; Johannes Zschocke
Journal:  J Inherit Metab Dis       Date:  2015-09-29       Impact factor: 4.982

Review 2.  Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Authors:  Martina Huemer; Viktor Kožich; Piero Rinaldo; Matthias R Baumgartner; Begoña Merinero; Elisabetta Pasquini; Antonia Ribes; Henk J Blom
Journal:  J Inherit Metab Dis       Date:  2015-03-12       Impact factor: 4.982
  2 in total

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