Results 181 to 190 of about 39,984 (208)

Cardiac and Clinical Phenotype in Barth Syndrome

Pediatrics, 2006
OBJECTIVE. Barth syndrome, an X-linked disorder that is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria.
Carolyn T, Spencer, Randall M, Bryant, Jane, Day, Iris L, Gonzalez, Steven D, Colan, W Reid, Thompson, Julie, Berthy, Sharon P, Redfearn, Barry J, Byrne   +8 more
openaire   +2 more sources

Barth-Syndrom

Monatsschrift Kinderheilkunde, 2000
I. Rost, A. Duroux, D. Toniolo, E. Holinski-Feder, R. Kozlik-Feldmann   +4 more
openaire   +1 more source

Barth Syndrome

2018
Persio Roxo-Junior, Isabela Mina
openaire   +1 more source

AAV Gene Therapy Prevents and Reverses Heart Failure in a Murine Knockout Model of Barth Syndrome

Circulation Research, 2020
Suya Wang, Yifei Li, Yang Xu
exaly  

Clinical presentation and natural history of Barth Syndrome: An overview

Journal of Inherited Metabolic Disease, 2022
Carolyn Taylor, Brittany Decroes, Hilary J Vernon   +2 more
exaly  

Barth syndrome

2011
Yuranga Weerakkody, Rohit Sharma, Daniel Bell   +2 more
openaire   +1 more source

Recent progress in Lynch syndrome and other familial colorectal cancer syndromes

Ca-A Cancer Journal for Clinicians, 2018
Patrick M Boland, Clement Richard Boland, Matthew B Yurgelun   +2 more
exaly  

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

Nature Medicine, 2014
Megan L Mccain, Luhan Yang, Aibin He
exaly  

A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population

Journal of Pediatrics, 2020
Michael Schlame, Colin K L Phoon
exaly  

Barth syndrome associated with triple mutation

Pediatrics International, 2018
Nobuyuki Tsujii, Takeharu Hayashi, Tamaki Hayashi, Akinori Kimura, Toshiya Nishikubo   +4 more
openaire   +2 more sources