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Journal of Translational Genetics and Genomics

CONTENTS

Topic: Screening and Treatment of Barth Syndrome

1 Reduced protein kinase C delta in a high molecular weight complex in mitochondria and elevated creatine
uptake into Barth syndrome B lymphoblasts
Edgard M. Mejia, Genevieve C. Sparagna, Donald W. Miller, Grant M. Hatch
J Transl Genet Genom 2024;8:216-24. http://dx.doi.org/10.20517/jtgg.2024.11

2 The diagnostic odyssey, clinical burden, and natural history of Barth syndrome: an analysis of patient registry
data
Aileen Kenneson, Yonglin Huang, Erik Lontok, Lindsay Marjoram
J Transl Genet Genom 2024;8:285-97.. http://dx.doi.org/10.20517/jtgg.2024.22

3 What can ATP content tell us about Barth syndrome muscle phenotypes?
Jeffrey J. Brault, Simon J. Conway
J Transl Genet Genom 2025;9:1-10. http://dx.doi.org/10.20517/jtgg.2024.83