Results 71 to 80 of about 8,071 (187)

Tensor operators: constructions and applications for long-range interaction systems

, 2010
We consider the representation of operators in terms of tensor networks and their application to ground-state approximation and time evolution of systems with long-range interactions.
Dür, W., Fröwis, F., Nebendahl, V.
core   +1 more source

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

A partial wave analysis of the $\pi ^0\pi ^0$ system produced in $\pi ^-p$ charge exchange collisions

, 2000
A partial wave analysis of the of the $\pi ^0\pi ^0$ system produced in the charge exchange reaction: $\pi ^-p\to \pi ^0\pi ^0n$ at an incident momentum of $18.3 GeV/c$ is presented as a function of ${\pi ^0\pi ^0}$ invariant mass, $m_{\pi^0\pi^0}$, and ...
A. A. Yershov, A. H. Sanjari, A. I. Ostrovidov, A. P. Szczepaniak, A. R. Dzierba, A. V. Popov, A.C. Irving, A.C. Irving, A.V. Anisovich, A.V. Anisovich, C. Olchanski, D. Alde, D. Alde, D. B. White, D. Barberis, D. I. Ryabchikov, D. L. Steinike, D. P. Weygand, D. R. Rust, D. R. Thompson, D. S. Brown, D. Zhao, E. I. Ivanov, E. King, E. Scott, G. Grayer, G. S. Adams, H. J. Willutzki, I. A. Kachaev, I. N. Vardanyan, J. A. Smith, J. Gunter, J. J. Manak, J. Kuhn, J. M. Bishop, J. M. LoSecco, J. Napolitano, J. P. Cummings, J. P. Dowd, J. Wise, K. A. Plinske, K. Danyo, K. K. Seth, K.L. Au, L. I. Sarycheva, M. A. Kostin, M. Harada, M. Hayek, M. Nozar, M. R. Shepherd, M. Witkowski, N. B. Sinev, N. M. Cason, N. Shenhav, N.N. Achasov, O. L. Kodolova, P. Estabrooks, P. Estabrooks, P. Eugenio, P. Minkowski, P. T. Smith, R. Kaminski, R. Lindenbusch, R. W. Hackenburg, R.R. Crittenden, S. A. Taegar, S. Fukui, S. Godfrey, S. P. Denisov, S. Teige, S. Teige, S. U. Chung, S.U. Chung, T. Adams, T. Adams, T. K. Pedlar, T. Sulanke, V. A. Bodyagin, V. A. Dorofeev, V. L. Korotkikh, V. V. Lipaev, V.V. Anisovich, V.V. Anisovich, W. D. Shephard, W. Hoogland, W. Kern, W.D. Apel, Z. Bar-Yam, Z. Bar-Yam   +88 more
core   +1 more source

Calculation of continuous reference intervals for biological parameters exhibiting strong age‐dependent level changes: Its application to glycosaminoglycans and sialic acid in urine

JIMD Reports, Volume 65, Issue 6, Page 442-449, November 2024.
Abstract Glycosaminoglycan (GAG) and sialic acid (total and free) assays are used as first‐line screening tests for the diagnosis of mucopolysaccharidoses and glycoproteinoses, respectively. There is a pronounced age‐dependent variation in the urinary concentrations of these metabolites in the normal population, and the stratification of the reference ...
Carlos Emilio Rodríguez, Mette Diswall, Anders Olsson, Torleif Jonsson, Eva Johansson, Maria Blomqvist   +5 more
wiley   +1 more source

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome). [PDF]

PLoS ONE, 2016
Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions.
Christoph Kampmann, Tariq Abu-Tair, Seyfullah Gökce, Christina Lampe, Jörg Reinke, Eugen Mengel, Julia B Hennermann, Christiane M Wiethoff   +7 more
doaj   +1 more source

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa [PDF]

, 2017
Background: This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period.
Giugliani, R, Guffon, N, Hawley, SM, Hughes, D, Jones, SA, Matousek, R, Mengel, KE, Parini, R, Quartel, A   +8 more
core   +2 more sources

Multireference Correlation in Long Molecules with the Quadratic Scaling Density Matrix Renormalization Group [PDF]

, 2006
We have devised and implemented a local ab initio Density Matrix Renormalization Group (DMRG) algorithm to describe multireference nondynamic correlations in large systems.
Garnet Kin-Lic Chan, Johannes Hachmann, Roos B. O., Wim Cardoen   +3 more
core   +2 more sources

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Journal of Genetic Counseling, Volume 33, Issue 5, Page 1026-1034, October 2024.
Abstract The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis ...
Kelly Roche, Shama P. Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze   +5 more
wiley   +1 more source

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Natural history of Morquio A patient with tracheal obstruction from birth to death

Molecular Genetics and Metabolism Reports, 2018
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan ...
Caitlin Doherty, Lauren W. Averill, Mary Theroux, William G. Mackenzie, Christian Pizarro, Robert W. Mason, Shunji Tomatsu   +6 more
doaj   +1 more source