Results 131 to 140 of about 39,984 (208)

Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome. [PDF]

Hum Mol Genet, 2023
Wang S, Yazawa E, Keating EM, Mazumdar N, Hauschild A, Ma Q, Wu H, Xu Y, Shi X, Strathdee D, Gerszten RE, Schlame M, Pu WT.   +12 more
europepmc   +1 more source

Chronic pentamidine aerosol prophylaxis does not induce QT-prolongation and vetricular arrythmias [PDF]

, 1993
Bogner, Johannes R., Lohmöller, G., Thalhammer, C.   +2 more
core   +1 more source

Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome. [PDF]

JIMD Rep
Cade WT, Bohnert KL, Peterson LR, Fuentes LL, Poehlein E, Green CL, Pacak CA, Byrne BJ, Reeds DN, Bashir A, Feingold B, Taylor C.   +11 more
europepmc   +1 more source

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene. [PDF]

Mol Genet Genomic Med, 2023
Takeda A, Ueki M, Abe J, Maeta K, Horiguchi T, Yamazawa H, Izumi G, Chida-Nagai A, Sasaki D, Tsujioka T, Sato I, Shiraishi M, Matsuo M.   +12 more
europepmc   +1 more source

The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module. [PDF]

Occup Ther Int, 2023
Lim Y, Hong I, Han A.
europepmc   +1 more source

Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report. [PDF]

Eur Heart J Case Rep
Ortmann L, Velasco D, Cole J.
europepmc   +1 more source

Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts. [PDF]

Biology (Basel), 2023
Zegallai HM, Duan K, Hatch GM.
europepmc   +1 more source

A novel <i>TAFAZZIN</i> gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report. [PDF]

Front Pediatr
Krawiec M, Śliwka J, Pawlak S, Kapałka M, Hamerling P, Grzywacz W, Hawel W, Skórska G, Piekutowska-Abramczuk D, Hrapkowicz T.   +9 more
europepmc   +1 more source

Restoration of mitophagy ameliorates cardiomyopathy in Barth syndrome. [PDF]

Autophagy, 2022
Zhang J, Liu X, Nie J, Shi Y.
europepmc   +1 more source

Thyroid dysfunction in African trypanosomiasis [PDF]

, 1993
Allolio, B., Arlt, W., Chrousos, G. P., Heppner, C., Mbulamberi, D., Petzke, F., Reincke, Martin, Siekmann, L., Vollmer, D., Winkelmann, W.   +9 more
core