Results 191 to 200 of about 10,805 (242)

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Multi-Omics and Network-Based Drug Repurposing for Septic Cardiomyopathy. [PDF]

Pharmaceuticals (Basel)
Liu PP, Yu XY, Pan QQ, Ren JJ, Han YX, Zhang K, Wang Y, Huang Y, Ban T.   +8 more
europepmc   +1 more source

Long Term Follow‐Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Propionic acidemia (PA) is a rare inherited metabolic disorder associated with recurrent metabolic decompensations and chronic multisystemic complications. Liver transplantation (LT) may improve metabolic stability, but its long‐term impact on organ involvement remains debated.
Tristan Mekdade, Claire‐Marine Bérat, Manuel Schiff, Margaux Gaschignard, Juliette Bouchereau, Jean‐Baptiste Arnoux, Claire Francoz, Aude Servais, Myriam Dao, Vickie Lacroix, Julien Maquet, Apolline Imbard, Edouard Le Guillou, Clément Pontoizeau, Jean‐François Benoist, Mehdi Oualha, Marion Grimaud, Charles de Marcellus, Laurent Sabbah, Claire Mayer, Christophe Chardot, Carmen Capito, Diala Khraiche, Florence Lacaille, Pascale de Lonlay, Anaïs Brassier   +25 more
wiley   +1 more source

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Diagnostic Utility of Pentraxin 3 Expression in Septic Cardiomyopathy: Findings from a Prospective Observational Study. [PDF]

J Inflamm Res
Cui N, Lv XW, Shao TH, Yu ZB, Chen Z, Sun T, Li TM, Zhang JW, Hu ZJ.   +8 more
europepmc   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Integrative omics analysis identifies biomarkers of septic cardiomyopathy. [PDF]

PLoS One
Cai K, Luo Y, Chen H, Dong Y, Su Y, Lin C, Cai C, Shi Y, Lin S, Lian G, Lin Z, Feng S.   +11 more
europepmc   +1 more source

Pre‐Sport Cardiac Evaluation in Children: Detection of Risks Other Than Sudden Cardiac Death

Annals of Noninvasive Electrocardiology, Volume 31, Issue 4, July 2026.
In children who want to play sports, is a cardiac evaluation necessary only for sudden cardiac death? ABSTRACT Objective Sudden deaths may occur in children and adolescents due to unexpected cardiac problems during sports. This study aimed to screen for abnormalities that may lead to future morbidity in addition to the risk of sudden death and to ...
Mehmet Öncül, Abdulgani Gülyüz
wiley   +1 more source

Unveiling Key Biomarkers and Mechanisms in Septic Cardiomyopathy: A Comprehensive Transcriptome Analysis. [PDF]

J Inflamm Res
Zhao D, Zhuang J, Wang L, Wu L, Xu W, Zhao L, Hong J, Jin W, Miao C.   +8 more
europepmc   +1 more source

Targeting Lcn2 to Inhibit Myocardial Cell Ferroptosis is a Potential Therapy for Alleviating Septic Cardiomyopathy. [PDF]

Inflammation
Jiang C, Hou M, Sun S, Chen G, Bai F, Wang S.   +5 more
europepmc   +1 more source