Results 91 to 100 of about 6,529 (164)

Barth Syndrome [PDF]

, 2019
openaire   +1 more source

Reproductive decision-making for Barth syndrome carriers: Unexplored complexities. [PDF]

J Genet Couns
Castro J, James CA, Owczarzak J, McClellan R, Jamal L.   +4 more
europepmc   +1 more source

Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome. [PDF]

Diabetologia
Carlein C, Hoffmann MDA, Bickelmann C, Amaral AG, Lotfinia A, de Selliers LA, Audouze-Chaud J, Wrublewsky S, Lauterbach MA, von der Malsburg K, van der Laan M, Bozem M, Hoth M, Gilon P, Ravier MA, Morgan B, Ampofo E, Higuchi T, Bertero E, Dudek J, Maack C, Roma LP.   +21 more
europepmc   +1 more source

Hypogammaglobulinaemia and B cell lymphopaenia in Barth syndrome. [PDF]

BMJ Case Rep, 2022
Kudlaty E, Agnihotri N, Khojah A.
europepmc   +1 more source

3D bioprinted myocardium patches for rare Barth syndrome: TAZ mutation correction in cardioblasts. [PDF]

Ann Med Surg (Lond)
Tahir A, Imtiaz E, Mahato RK.
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

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome. [PDF]

PLoS One, 2023
Schweitzer GG, Ditzenberger GL, Hughey CC, Finck BN, Martino MR, Pacak CA, Byrne BJ, Cade WT.   +7 more
europepmc   +1 more source

Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model. [PDF]

FASEB J
Tongu Y, Kasahara T, Matsuhashi T, Oikawa Y, Akimoto R, Luo Y, Sekine S, Suzuki M, Kashiwagi H, Kanno S, Tanaka Y, Sato K, Okubo Y, Muto A, Tokuno H, Suzuki C, Kawabe C, Ishikawa T, Watanabe S, Kikuchi K, Itai S, Sato T, Suzuki T, Igarashi K, Fukuda S, Soga T, Murayama K, Kuranaga E, Toyohara T, Abe T.   +29 more
europepmc   +1 more source

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue. [PDF]

EMBO Mol Med
Schomakers BV, Passadouro AS, Trętowicz MM, Simpson PJ, Jaspers YRJ, van Weeghel M, Hu IM, Lamboo CME, Cloutier D, Byrne BJ, van Klinken JB, Janssen PML, Piersma SR, Jimenez CR, Vaz FM, Salomons GS, van der Velden J, Houtkooper RH, Mosegaard S.   +18 more
europepmc   +1 more source

Pharmacological increases in circulating ketones fail to alleviate the hypertrophic cardiomyopathy present in the Tafazzin knockdown mouse model of Barth syndrome. [PDF]

J Pharm Pharm Sci
Shafaati T, Greenwell AA, Saed CT, Tabatabaei Dakhili SA, Chan JSF, Dong L, Stenlund MJ, Ferrari SR, Han R, Kruger J, Eaton F, Gopal K, Davidge ST, Oudit GY, Ussher JR.   +14 more
europepmc   +1 more source