Results 101 to 110 of about 7,012,750 (124)

A Narrative Review of Bertolotti's Syndrome: Etiology, Classification, Diagnosis, and Treatment. [PDF]

Cureus
Tsegaye MA, Muffly A.
europepmc   +1 more source

Signs and symptoms of carriers of non-<i>DMD</i> X-linked neuromuscular diseases: A scoping review. [PDF]

J Neuromuscul Dis
Simons J, Dekker A, Govaarts R, Sarkozy A, Windpassinger C, Houwen S, Voermans N.   +6 more
europepmc   +1 more source

Oral small molecule GLP-1 receptor agonist aleniglipron in people with overweight or obesity: a randomized, double-blind, placebo-controlled phase 2b trial. [PDF]

Nat Med
Rosenstock J, Lingvay I, Ryan D, Jastreboff AM, Kushner R, Acosta A, Blevins TC, Choi M, Holmes FL, Smith T, Connery L, Li Y, Liu MK, Barth A, Butcher J, Civitarese A, Yue H, Coll B, ACCESS Trial Investigators.   +18 more
europepmc   +1 more source

The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities. [PDF]

Mol Genet Metab Rep
Rollier P, Cospain A, Barth M, Milon V, Gueguen N, Homedan C, Desquiret V, Bris C, Colin E, Damaj L, Ryckewaert A, Reynier P, Odent S, Amati-Bonneau P, Procaccio V, Bonneau D, Ziegler A.   +16 more
europepmc   +1 more source

Clinical Laboratory Studies in Barth Syndrome

Molecular Genetics and Metabolism, 2014
Barth Syndrome is a rare X-linked disorder characterized principally by dilated cardiomyopathy, skeletal myopathy and neutropenia and caused by defects in tafazzin, an enzyme responsible for modifying the acyl chain moieties of cardiolipin. While several
Hilary J Vernon, Richard I Kelley, Yana Sandlers   +2 more
exaly   +2 more sources

Successful Management of Barth Syndrome: A Systematic Review Highlighting the Importance of a Flexible and Multidisciplinary Approach [PDF]

Journal of Multidisciplinary Healthcare, 2015
This review describes and summarizes the available evidence related to the treatment and management of Barth syndrome. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards were used to identify articles published ...
Stacey Reynolds
exaly   +1 more source

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Clinical Presentation and Natural History of Barth Syndrome: An Overview.

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

Loss of Mitochondrial Ca2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy

Circulation, 2021
Peter Rehling, Mathias Hohl, Markus Hoth
exaly