The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Abstract The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This national, prospective, observational, multi-centre study includes 107 individuals wi...

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Auteurs principaux: E. M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Roloff, Iris Marquardt, Anibh M. Das, Peter Freisinger, Sarah C. Grünert, Johannes Krämer, Matthias R. Baumgartner, Skadi Beblo, Claudia Haase, Andrea Dieckmann, Martin Lindner, Andrea Näke, Georg F. Hoffmann, Chris Mühlhausen, Magdalena Walter, Sven F. Garbade, Esther M. Maier, Stefan Kölker, Nikolas Boy
Format: article
Langue:EN
Publié: Nature Portfolio 2021
Sujets:
Medicine
R
Science
Q
Accès en ligne:https://doaj.org/article/da32808a76694de6ae0aa2dc357545d7
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https://doaj.org/article/da32808a76694de6ae0aa2dc357545d7

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