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The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study†‡

American Journal of Medical Genetics, Part A, 2012
Barth syndrome (BTHS); MIM accession # 302060) is a rare X-linked recessive cardioskeletal mitochondrial myopathy with features of cardiomyopathy, neutropenia, and growth abnormalities.
Colin Steward, Byrne Barry, Matthew Fletcher   +2 more
exaly   +2 more sources

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PP03.3 – 2376: A non-classical clinical course of Barth syndrome (BTHS)

European Journal of Paediatric Neurology, 2015
A non-classical clinical course of Barth Syndrome (BTHS) A six year-old boy, born to non-consanguineous, healthy parents was primarily referred because of growth retardation. Auxological parameters were below the 3rd percentile after having been normal at birth.
M. Fleger, M. Huemer, K. Schlachter, J. Mayr, W. Sperl, H. Prokisch, T. Haack, A. Bowron   +7 more
openaire   +1 more source

Barth Syndrome (BTHS)

exaly   +2 more sources

Favorable outcomes after heart transplantation in Barth syndrome

Journal of Heart and Lung Transplantation, 2021
Anne I Dipchand, Justin Andrew Godown, Brian Feingold   +2 more
exaly  

Cardiolipin Remodeling Defects Impair Mitochondrial Architecture and Function in a Murine Model of Barth Syndrome Cardiomyopathy

Circulation: Heart Failure, 2021
Sylvia Evans, Asa Gustafsson, Ying SHEN
exaly  

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis Free

Blood, 2004
Barbara Plecko, Taco W Kuijpers, Peter G. Barth   +2 more
exaly  

Endocardial Fibroelastosis (Barth syndrome, cardioskeletal myopathy with neutropenia and abnormal mitochondria, BTHS)

2008
openaire   +1 more source

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2016
Peter Rehling, Kaomei Guan, Britta Brügger   +2 more
exaly