Results 101 to 110 of about 809 (138)

Cardiolipin metabolism in Barth syndrome [PDF]

, 2009
Houtkooper, R.H.L.
core   +2 more sources

DISEASE MODELING AND MODIFICATION IN CELLULAR MODELS OF BARTH SYNDROME [PDF]

Barth syndrome (BTHS) is a rare, X-linked inborn error of mitochondrial phospholipid metabolism caused by pathogenic variants in the gene TAFAZZIN (TAZ), which leads to abnormal cardiolipin (CL) metabolism on the inner mitochondrial membrane.
Sniezek, Olivia L
core   +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

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models. [PDF]

EMBO Mol Med
Passadouro AS, Balfoort BM, Langeveld M, van Karnebeek CDM, van der Velden J, Houtkooper RH, Mosegaard S.   +6 more
europepmc   +1 more source

Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome. [PDF]

Stem Cell Rev Rep
Sierra Potchanant EA, Capitano ML, Edwards DM, Ramdas B, Cooper S, Ropa J, Pay SL, Sheth A, Snider PL, Vernon HJ, Tran NT, Kapur R, Conway SJ.   +12 more
europepmc   +1 more source

Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome. [PDF]

Front Pediatr, 2023
Tovaglieri N, Russo S, Micaglio E, Corcelli A, Lobasso S.   +4 more
europepmc   +1 more source

Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome [PDF]

, 2007
C. G. Steward, F. M. Vaz, F. S. Stet, H. Kemp, H. van Lenthe, J. E. Stone, R. H. Houtkooper, R. J. Wanders, W. Kulik   +8 more
core   +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

Barth Syndrome: <i>TAFAZZIN</i> Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review. [PDF]

Genes (Basel)
Sergi CM.
europepmc   +1 more source

What can ATP content tell us about Barth syndrome muscle phenotypes? [PDF]

J Transl Genet Genom
Brault JJ, Conway SJ.
europepmc   +1 more source