The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a nationa...
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
About this item
Full title
Author / Creator
Märtner, E. M. Charlotte , Thimm, Eva , Guder, Philipp , Schiergens, Katharina A. , Rutsch, Frank , Roloff, Sylvia , Marquardt, Iris , Das, Anibh M. , Freisinger, Peter , Grünert, Sarah C. , Krämer, Johannes , Baumgartner, Matthias R. , Beblo, Skadi , Haase, Claudia , Dieckmann, Andrea , Lindner, Martin , Näke, Andrea , Hoffmann, Georg F. , Mühlhausen, Chris , Walter, Magdalena , Garbade, Sven F. , Maier, Esther M. , Kölker, Stefan and Boy, Nikolas
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 with confirmed GA1 identified by newborn screening between 19...
Alternative Titles
Full title
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Authors, Artists and Contributors
Author / Creator
Thimm, Eva
Guder, Philipp
Schiergens, Katharina A.
Rutsch, Frank
Roloff, Sylvia
Marquardt, Iris
Das, Anibh M.
Freisinger, Peter
Grünert, Sarah C.
Krämer, Johannes
Baumgartner, Matthias R.
Beblo, Skadi
Haase, Claudia
Dieckmann, Andrea
Lindner, Martin
Näke, Andrea
Hoffmann, Georg F.
Mühlhausen, Chris
Walter, Magdalena
Garbade, Sven F.
Maier, Esther M.
Kölker, Stefan
Boy, Nikolas
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_da32808a76694de6ae0aa2dc357545d7
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_da32808a76694de6ae0aa2dc357545d7
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-021-98809-9
