Results 51 to 60 of about 10,813 (223)

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations

International Journal of Neonatal Screening, 2022
Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Patrice K. Held, Emily Singh, Jessica Scott Schwoerer   +2 more
doaj   +1 more source

Nature's Starships. I. Observed Abundances and Relative Frequencies of Amino Acids in Meteorites [PDF]

, 2014
The class of meteorites called carbonaceous chondrites are examples of material from the solar system which have been relatively unchanged from the time of their initial formation. These meteorites have been classified according to the temperatures and physical conditions of their parent planetesimals.
arxiv   +1 more source

Vitamin B12 Levels Association with Functional and Structural Biomarkers of Central Nervous System Injury in Older Adults

Annals of Neurology, EarlyView.
At low levels of B12, specifically when bound to transcobalamin for cellular uptake, evidence of slower conductivity in the brain could point toward impaired myelin. At high levels of B12, specifically when bound to the biologically inert transport protein haptocorrin, biomarkers of neurodegeneration appear in the serum, indicating neuroaxonal injury ...
Alexandra Beaudry‐Richard, Ahmed Abdelhak, Rowan Saloner, Simone Sacco, Shivany C. Montes, Frederike C. Oertel, Christian Cordano, Nour Jabassini, Kirtana Ananth, Apraham Gomez, Azeen Keihani, Makenna Chapman, Sree Javvadi, Shikha Saha, Adam Staffaroni, Christopher Songster, Martin Warren, John W. Boscardin, Joel Kramer, Bruce Miller, Joshua W. Miller, Ralph Green, Ari J. Green   +22 more
wiley   +1 more source

Cobalamin and folate status in 6 to 35 months old children presenting with acute diarrhea in Bhaktapur, Nepal.

PLoS ONE, 2014
BackgroundCobalamin and folate are essential micronutrients and are important in DNA and RNA synthesis, cell proliferation, growth, hematopoiesis, and cognitive function.
Manjeswori Ulak, Ram K Chandyo, Ramesh K Adhikari, Pushpa R Sharma, Halvor Sommerfelt, Helga Refsum, Tor A Strand   +6 more
doaj   +1 more source

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

BMC Medical Genetics, 2020
Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood ...
Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu, Xu-Qin Chen   +9 more
doaj   +1 more source

Meteoritic Abundances of Fatty Acids and Potential Reaction Pathways in Planetesimals [PDF]

Icarus, 2019, 319, 685-700, 2018
The origin of fatty acids on the prebiotic Earth is important as they likely formed the encapsulating membranes of the first protocells. Carbon-rich meteorites (i.e., carbonaceous chondrites) such as Murchison and Tagish Lake are well known to contain these molecules, and their delivery to the early planet by intense early meteorite bombardments ...
arxiv   +1 more source

“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic weakness with or without associated complex neurological symptoms.
Qingqing Wang, Manikum Moodley
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Trends in resource utilization for new‐onset psychosis hospitalizations at children's hospitals

Journal of Hospital Medicine, EarlyView.
Abstract Background Children with new‐onset psychosis often require hospitalization for medical evaluation. Objectives The goal of this study was to assess variations in the management of children with new‐onset psychosis and characterize trends in resource utilization.
Ankita Gupta, Matt Hall, Benjamin Masserano, Averi Wilson, Katherine Johnson, Clifford Chen, Lasya Challa, Harita Katragadda, Vineeta Mittal   +8 more
wiley   +1 more source

Multiomics profiling and parenteral nutrition weaning in pediatric patients with intestinal failure: A longitudinal cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Intestinal failure (IF) is a life‐limiting condition that includes a variety of intestinal pathologies. Currently, there are few clinical biomarkers that reflect intestinal function or a patient's potential to wean off parenteral nutrition (PN), making it difficult to predict the clinical trajectory.
Niklas Tappauf, Yvonne Lamers, Ho Pan Sham, Hannah G. Piper   +3 more
wiley   +1 more source