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PubMed articles by:
Janošík, M.
Sokolová, J.
Janošíková, B.
Kožich, V.
J Pediatr. 2009 March; 154(3): 431-437.
doi:  10.1016/j.jpeds.2008.09.015
PMCID: PMC2653617
Copyright © 2009 Mosby, Inc.
Birth Prevalence of Homocystinuria in Central Europe: Frequency and
Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine
Beta-Synthase Gene
Miroslav Janošík, Jitka Sokolová, Bohumila Janošíková, Jakub Krijt,
Veronika Klatovská, and Viktor Kožich [low asterisk]
Institute of Inherited Metabolic Disorders, Charles University in
Prague-1st Faculty of Medicine, Prague, Czech Republic
Viktor Kožich: Viktor.Kozich/at/LF1.cuni.cz
[low asterisk] Reprint requests: Viktor Kožich, MD, PhD, Institute of
Inherited Metabolic Disorders, Charles University in Prague -First
Faculty of Medicine, Ke Karlovu 2, 128 00 Prague 2, Czech Republic ;
Email: Viktor.Kozich/at/LF1.cuni.cz
Received May 19, 2008; Revised August 11, 2008; Accepted September 4,
2008.
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available for free, on ScienceDirect, at:
http://dx.crossref.org/10.1016/j.jpeds.2008.09.015
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