JIMD Reports, Volume 39 by Eva Morava Matthias Baumgartner Marc Patterson Shamima Rahman Johannes Zschocke & Verena Peters

JIMD Reports, Volume 39 by Eva Morava Matthias Baumgartner Marc Patterson Shamima Rahman Johannes Zschocke & Verena Peters

Author:Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke & Verena Peters
Language: eng
Format: epub
Publisher: Springer Berlin Heidelberg, Berlin, Heidelberg


Synopsis

Some patients with the classical variant of infantile onset Pompe disease run the risk of an early childhood onset progressive white matter involvement.

Details of the Contributions of Individual Authors

Dr. Broomfield conceived and was the main author of the manuscript.

Miss Fletcher: Helped collect data and has critically reviewed the manuscript.

Miss Hensman: Helped collect data and has critically reviewed the manuscript.

Mr. Wright: Both performed and analysed the data of the NGS investigations. He also critically reviewed the manuscript.

Miss Prunty performed the CSF HPLS tetrasaccharide assay and critically reviewed the manuscript.

Dr. Pavaine reviewed and selected the neuroimaging and critically reviewed the manuscript.

Dr. Jones helped collect data and conception of the manuscript and has reviewed the manuscript.



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