Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders

Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders

Abstract Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited metabolic diseases included in NBS programs worldwide. Methods...

Full description

Bibliographic Details
Main Authors: Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
Format: Article
Language:English
Published: Wiley 2024-04-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.52002

Internet

https://doi.org/10.1002/acn3.52002

Similar Items