Results 251 to 260 of about 194,004 (300)

Liquid Biopsy of Circulating Tumor Cells and DNA in the Context of PSMA Radiopharmaceutical Therapy. [PDF]

J Nucl Med
Holzgreve A, Mona CE, Kimura K, Li X, Zhu Y, Tseng HR, Lee JK, Drakaki A, Garraway IP, Rettig MB, Calais J, Salavati A.   +11 more
europepmc   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Epigenetic and Liquid Biopsy Biomarkers in Prostate Cancer: Bridging Tumor Heterogeneity and Clinical Implementation. [PDF]

Cancers (Basel)
Robaczyńska J, Maj M, Kiljańczyk A, Pastuszek B, Reducha E, Nurkiewicz A, Kiljańczyk M.   +6 more
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Liquid biopsy biomarkers for accurate detection of malignant pulmonary nodules: a meta-analytic approach. [PDF]

Discov Oncol
Caballero-Vazquez A, Garcia-Cerezo M, Fernandez-Castro LR, Morales-Garcia C, Lainez Ramos-Bossini AJ, Vergara-Rubio F, Ortega-Sanchez FG, Sanchez-Maldonado JM.   +7 more
europepmc   +1 more source

Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis

Annals of Neurology, EarlyView.
Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi, Chiara Milano, Laura Marmolejo, Ana Beatriz Serafim, Esther Aguilar, Mar Guasp, Elianet Fonseca, Mateus Mistieri Simabukuro, Raffaele Iorio, Yuki Fukami, Maria Lucia Schmitz Ferreira Santos, Takashi Miwa, Takashi Araga, Yuto Uchida, Masanori Kurihara, Satoshi Okada, Luz Victoria Garcia, Kenichi Kaida, Natalia Spinola Costa da Cunha, Alberto Vogrig, Florian Lamblin, Juna M. de Vries, Livia Almeida Dutra, Romana Höftberger, Maarten J. Titulaer, Jesús Planagumà, Lidia Sabater, Eugenia Martinez‐Hernandez, Thais Armangué, Francesc Graus, Takahiro Iizuka, Josep Dalmau, Marianna Spatola, Anti‐GABAAR encephalitis study group   +33 more
wiley   +1 more source

Clinical Utility of Small Extracellular Vesicles as Liquid Biopsy for Oral Mucosal Disease Diagnostics: Emerging Perspectives. [PDF]

Diagnostics (Basel)
Adebayo OF, Temilola DO, Owotade FJ, Chetty M.   +3 more
europepmc   +1 more source

From feasibility to translational pathways: a bibliometric and knowledge-mapping analysis of urine-based liquid biopsy in urologic cancers (2015-2025). [PDF]

J Transl Med
Liu H, Fu Y, Yang J, Wang L, Bao J, Ding L, Shi W, Chen S, Li X.   +8 more
europepmc   +1 more source

Liquid biopsy in lung cancer screening: rationale, progress, opportunities and challenges. [PDF]

Clin Exp Med
Li C, Jiang H, Sun X, Meng F, Cui P, Wang G, Liu C, Cai S, Duan F, Su Q, Zhao C.   +10 more
europepmc   +1 more source