Results 131 to 140 of about 2,741,348 (370)
CaseReportBench: An LLM Benchmark Dataset for Dense Information Extraction in Clinical Case Reports [PDF]
arXivRare diseases, including Inborn Errors of Metabolism (IEM), pose significant diagnostic challenges. Case reports serve as key but computationally underutilized resources to inform diagnosis. Clinical dense information extraction refers to organizing medical information into structured predefined categories.
arxiv
Inborn Errors of Metabolism: The Croonian Lectures Delivered Before the Royal College of Physicians of London, in June, 1908. [PDF]
, 1909 openalex +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective The aim of this study was to compare placenta‐related complications (adverse placental syndrome) between different types of fetal CHD based on cardiac hemodynamics. Method All CHD cases diagnosed prenatally by fetal ECHO during 2009–2023 were selected.
Maartje C. Snoep +10 more
wiley +1 more source
Morquio-Ullrich's Disease: An Inborn Error of Metabolism? [PDF]
, 1962 H Dyggve, J Melchior, J. Clausen
openalex +1 more source
Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings
Pediatric Discovery, EarlyView.Abstract Spina bifida is a birth defect resulting from abnormal embryonic development of the neural tube. Though spina bifida is divided into several subtypes, myelomeningocele—the most severe form of spina bifida often associated with a markedly diminished quality of life—accounts for a significant portion of cases.
Ethan S. Wong +13 more
wiley +1 more source
Research progress on renal calculus associate with inborn error of metabolism. [PDF]
Zhejiang Da Xue Xue Bao Yi Xue Ban, 2023 Song Y, Zhao C, Li D.
europepmc +1 more source
The untapped power of a general theory of organismal metabolism [PDF]
arXivWhat makes living things special is how they manage matter, energy, and entropy. A general theory of organismal metabolism should therefore be quantified in these three currencies while capturing the unique way they flow between individuals and their environments. We argue that such a theory has quietly arrived -- 'Dynamic Energy Budget' (DEB) theory --
arxiv
Homocystinuria: A New Inborn Error of Metabolism Associated With Mental Deficiency [PDF]
, 1963 openalex +1 more source
United European Gastroenterology Journal, EarlyView.ABSTRACT Malabsorption is a complex and multifaceted condition characterised by the defective passage of nutrients into the blood and lymphatic streams. Several congenital or acquired disorders may cause either selective or global malabsorption in both children and adults, such as cystic fibrosis, exocrine pancreatic insufficiency (EPI), coeliac ...
Marco Vincenzo Lenti +29 more
wiley +1 more source
Congenital biotinidase deficiency – MRI findings in two cases
Indian Journal of Radiology and Imaging, 2019 Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature.
Rahul S Ranjan +3 more
doaj +1 more source