Results 11 to 20 of about 4,805,408 (315)

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

International Journal of Neonatal Screening, 2022
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients.
Chloe Miu Mak, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai, Koon Yu Yuet   +5 more
doaj   +1 more source

PKU and COVID19: How the pandemic changed metabolic control

Molecular Genetics and Metabolism Reports, 2021
Background: COVID19 pandemic urged the need to take severe measures for reducing the epidemic spread. Lockdowns were imposed throughout countries and even Inborn errors of metabolism (IEMs) affected patients had to face it and adapt, with management ...
Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, Chiara Montanari, Sabrina Paci, Alice Re Dionigi, Andrea Scopari, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali   +9 more
doaj   +1 more source

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

Frontiers in Genetics, 2021
IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter   +3 more
doaj   +1 more source

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

Orphanet Journal of Rare Diseases, 2018
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera   +8 more
doaj   +1 more source

When Should You Adjust Standard Errors for Clustering? [PDF]

Quarterly Journal of Economics, 2017
Clustered standard errors, with clusters defined by factors such as geography, are widespread in empirical research in economics and many other disciplines. Formally, clustered standard errors adjust for the correlations induced by sampling the outcome
Alberto Abadie, S. Athey, G. Imbens, Jeffrey M. Wooldridge   +3 more
semanticscholar   +1 more source

Correlated charge noise and relaxation errors in superconducting qubits [PDF]

Nature, 2020
The central challenge in building a quantum computer is error correction. Unlike classical bits, which are susceptible to only one type of error, quantum bits (qubits) are susceptible to two types of error, corresponding to flips of the qubit state about
C. Wilen, S. Abdullah, N. Kurinsky, C. Stanford, L. Cardani, G. D’Imperio, C. Tomei, L.Faoro, L. Ioffe, C. H. Liu, A. Opremcak, B. Christensen, J. Dubois, R. M. U. O. Wisconsin-Madison, F. N. Laboratory, K. I. F. T. Physics, U. Chicago, S. University, I. Roma, Sorbonne Université, Google, Lawrence Livermore National Laboratory   +21 more
semanticscholar   +1 more source

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Molecular Genetics and Metabolism Reports, 2020
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares, R.M. López, L. Gort, A. Argudo-Ramírez, J.L. Marín, J.M. González de Aledo-Castillo, J. García-Villoria, J.A. Arranz, M. Del Toro, F. Tort, O. Ugarteburu, M.D. Casellas, R. Fernández, A. Ribes   +13 more
doaj   +1 more source

Ocular changes in premature infants [PDF]

Reviews in Clinical Medicine, 2017
Introduction: This article aimed to review the literatures on visual impairments and ocular changes in premature infants with low birth weight and gestational age.Methods: Five electronic databases including: PubMed, Web of Science, Science direct, Ovid,
Negareh Yazdani, Leyla Shahkarami, Javad Heravian Shandiz, Veda Vakili, Hadi Ostadimoghaddam, AbbasAli Yekta, Seyed Hosein Hoseini-Yazdi   +6 more
doaj   +1 more source

Errors in Errors

International Journal of Computer-Assisted Language Learning and Teaching, 2023
Automated writing evaluation (AWE) software is an increasingly popular tool for English second language learners. However, research on the accuracy of such software has been both scarce and largely limited in its scope. As such, this article broadens the field of research on AWE accuracy by using a mixed design to holistically evaluate the accuracy of ...
openaire   +1 more source

Mitigating measurement errors in multiqubit experiments [PDF]

, 2020
Reducing measurement errors in multi-qubit quantum devices is critical for performing any quantum algorithm. Here we show how to mitigate measurement errors by a classical post-processing of the measured outcomes.
S. Bravyi, S. Sheldon, A. Kandala, D. McKay, J. Gambetta   +4 more
semanticscholar   +1 more source