Results 91 to 100 of about 1,103,157 (202)

Genotype–Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Abubakar Nazir, Atif Hussain Sarwar, Rameen Nazar, Sarim Hassan Shahab, Sumera Manan, Hafsa Rafique, Ahsan Talal Khan, Abdalhakim Shubietah, Syed Rafay Hussain Zaidi, Behram Khan   +9 more
wiley   +1 more source

Phospholipid abnormalities in children with Barth syndrome

Journal of the American College of Cardiology, 2003
We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype.Barth syndrome typically includes cardiomyopathy, skeletal myopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations in the tafazzin ...
Schlame, Michael, Kelley, Richard I., Feigenbaum, Annette, Towbin, Jeffrey A., Heerdt, Paul M., Schieble, Thomas, Wanders, Ronald J. A., DiMauro, Salvatore, Blanck, Thomas J. J.   +8 more
openaire   +3 more sources

Barth Syndrome in Adulthood: A Clinical Case

Revista Española de Cardiología (English Edition), 2013
©2013. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This document is the Accepted, version of a Published Work that appeared in final form in Revista Española de Cardiología.
García Molina, Esperanza, Escudero, Fuensanta, Ruiz Espejo, Francisco, Sabater Molina, María, Ballesta Martínez, María Juliana, Guillén Navarro, Encarna   +5 more
openaire   +1 more source

Philoikos zur Beförderung häuslicher Tugend und Glückseligkeit

Autopsie nach Exemplar der ULB Sachsen-AnhaltVorlageform des Erscheinungsvermerks: Leipzig, bei Johann Ambrosius Barth ...
Pischon, Johann Karl
core   +1 more source

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome

Molecular Therapy: Methods & Clinical Development, 2019
Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano, Madhurima Saha, Meghan S. Soustek, Peter B. Kang, Barry J. Byrne, W. Todd Cade, Christina A. Pacak   +6 more
doaj   +1 more source

Johann August Ehrlichs Chirurgische, auf Reisen, vorzüglich in den Hospitälern zu London gemachte Beobachtungen : nebst Angabe verbesserter Operationsarten und Abbildung neuer Instrumente

Vorlageform des Erscheinungsvermerks: Leipzig, bey Johann Ambrosius Barth. 1795.Ill. (Kupferst.
Ehrlich, Johann August
core   +1 more source

Chirurgische Beobachtungen : nebst hinzugefügter Beschreibung der in England gebräuchlichen Charpiemaschine

Vorlageform des Erscheinungsvermerks: Leipzig, bey Johann Ambrosius Barth. 1815.3 Ill.
Ehrlich, Johann August
core   +1 more source

Barth syndrome : a mutational analysis of the BTHS gene [PDF]

, 1999
Barth syndrome is an X-linked recessive disorder affecting only males. The clinical features of Barth syndrome include cardiomyopathy, endocardial fibroelastosis, neutropenia, hypocholesterolemia, growth retardation, short stature and cyclic acidurias ...
Elliot, Ann M.
core  

Emerging roles of pyruvate dehydrogenase phosphatase 1: a key player in metabolic health

Frontiers in Physiology
Pyruvate dehydrogenase phosphatase (PDP), a structurally conserved member of the protein phosphatase C family (PP2C) of proteins, is a key regulatory enzyme responsible for reactivation of the mitochondrial gate-keeper, pyruvate dehydrogenase (PDH ...
Vikalp Kumar, Miriam L. Greenberg
doaj   +1 more source

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Balkan Journal of Medical Genetics, 2016
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V   +5 more
doaj   +1 more source