Results 111 to 120 of about 24,245 (208)

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Utility of Fetal Echocardiography with Acute Maternal Hyperoxygenation Testing in Assessment of Complex Congenital Heart Defects. [PDF]

Children (Basel), 2023
Patel SR, Madan N, Jone PN, Donofrio MT.
europepmc   +1 more source

Bright Ferritin for Non‐Invasive MRI Monitoring of the Fate of Transplanted hPSC‐Cardiomyocytes in the Infarcted Rat Heart

Magnetic Resonance in Medicine, Volume 96, Issue 1, Page 323-338, July 2026.
ABSTRACT Purpose To demonstrate that a recently reported bright ferritin magnetic resonance imaging (MRI) platform can track transplanted human pluripotent stem cell (hPSC)‐derived cardiomyocytes (hPSC‐CMs) longitudinally and on‐demand in the rat heart.
Keyu Zhuang, Faisal J. Alibhai, Beiping Qiang, Rocco Romagnuolo, Kyle D. W. Vollett, Bradley K. C. Freeman, M. Juliana Gomez‐Garcia, Tamilla Sadikov Valdman, Tameshwar Ganesh, Yu‐Qing Zhou, Hai‐Ying Mary Cheng, Michael A. Laflamme, Hai‐Ling Margaret Cheng   +12 more
wiley   +1 more source

Sustainable Low‐Field Cardiovascular Magnetic Resonance in Changing Healthcare Systems—An Update

NMR in Biomedicine, Volume 39, Issue 7, July 2026.
Low‐field cardiovascular MRI offers a cost‐effective and accessible alternative to conventional high‐field systems. Recent technological advances have improved image quality, safety, and device compatibility, expanding its clinical applications. These developments position low‐field CMR as a scalable solution to improve global cardiovascular imaging ...
Muhammad Umair, Ahmed Marey, Sanjana Murali, Udunna C. Anazodo, Adrienne E. Campbell‐Washburn, Ntobeko A. B. Ntusi, Orlando P. Simonetti, Thoralf Niendorf, Regina Mammen, Sola Adeleke   +9 more
wiley   +1 more source

Congenital long QT syndrome: A challenging diagnosis by fetal echocardiography. [PDF]

Ann Pediatr Cardiol, 2022
Santi AD, Restrepo M.
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Fetal echocardiography: A nine-year experience at a single tertiary center. [PDF]

North Clin Istanb
Tosun O.
europepmc   +1 more source

Clinical utility of fetal echocardiography: an Egyptian center experience. [PDF]

Egypt Heart J, 2021
Al-Fahham MM, Gad NA, Ramy ARM, Habeeb NM.   +3 more
europepmc   +1 more source

Artificial I ntelligence-Assisted Fetal Echocardiography: Improving Early Detection and Neonatal Outcomes of Congenital Heart Disease. [PDF]

Cardiol Cardiovasc Med
Patel K, Agrawal DK.
europepmc   +1 more source

Heartbeat: a multimodal dataset of fetal echocardiography and clinical metadata for early detection of congenital heart disease. [PDF]

Front Cardiovasc Med
Rodríguez S, Pérez A, Echeverry LM, Castillo Á, Ramírez NA, Escobar M, Guarín Monroy S, Vega D, Rodríguez N, Castro-Páez C, Navarro J, Domínguez MT, Laverde N, Sarmiento LA, Afanador D, D'silva Londoño L, Torres Narváez E, Fandiño MJ, Madrid AJ, Quintero JC, Rodríguez N, Briceño JC, Arbeláez P.   +22 more
europepmc   +1 more source