Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

P. G. Barth, H.R. Scholte, J.A. Berden et al. · Journal of the Neurological Sciences · 1983 · 701 citations

Medicine, Cardiology, Molecular Genetics +17

Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome

Michael Schlame, Jeffrey A. Towbin, Paul M. Heerdt et al. · Annals of Neurology · 2002 · 277 citations

Life Sciences, Biochemistry, Genetics +17

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

Pieter A. Bolhuis, Gerard W. Hensels, Theo J.M. Hulsebos et al. · PubMed · 1991 · 143 citations

Life Sciences, Genetics, Molecular Genetics +12

Cardiolipin deficiency in x-linked cardioskeletal myopathy and neutropenia (barth syndrome, mim 302060): a study in cultured skin fibroblasts

Fredoen Valianpour, Ronald J. A. Wanders, Henk Overmars et al. · The Journal of Pediatrics · 2002 · 101 citations

Medicine, Cardiology, Pathobiology +12