Results 91 to 100 of about 2,136,941 (364)

MiR-652-5p elevated glycolysis level by targeting TIGAR in T-cell acute lymphoblastic leukemia

Cell Death and Disease, 2022
The effect of glycolysis remains largely elusive in acute T lymphoblastic leukemia (T-ALL). Increasing evidence has indicated that the dysregulation of miRNAs is involved in glycolysis, by targeting the genes coding glycolysis rate-limiting enzymes.
Shan Liu, Haobiao Wang, Wei Guo, Xiaoyan Zhou, Yi Shu, Haiyan Liu, Li Yang, Shi Tang, Hongyu Su, Ziyang Liu, Lamei Zeng, Lin Zou   +11 more
doaj   +1 more source

Newborn screening for homocystinuria

Early Human Development, 1997
It is becoming increasingly apparent that pyridoxine responsive homocystinuria patients are being missed by newborn screening programs. The possibility that screening for homocystine, rather than the methionine, might be more effective was investigated by comparing homocystine and methionine levels of non-responsive patients at diagnosis.
S E, Snyderman, C, Sansaricq
openaire   +2 more sources

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Journal of Neuromuscular Diseases, 2020
In early 2018, Cure SMA convened a group of expert clinicians and scientists to develop a treatment algorithm using a reiterative surveying modified Delphi technique for infants diagnosed with spinal muscular atrophy (SMA) via newborn screening (NBS ...
J. Glascock, J. Sampson, A. Connolly, B. Darras, J. Day, R. Finkel, R. Howell, Katherine W. Klinger, N. Kuntz, T. Prior, P. Shieh, T. Crawford, D. Kerr, J. Jarecki   +13 more
semanticscholar   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Building a Newborn Screening Information Management System from Theory to Practice

International Journal of Neonatal Screening, 2019
Information Management Systems are the central process management and communication hub for many newborn screening programs. In late 2014, Newborn Screening Ontario (NSO) undertook an end to end assessment of its information management needs which ...
Michael Pluscauskas, Matthew Henderson, Jennifer Milburn, Pranesh Chakraborty   +3 more
doaj   +1 more source

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis

Diabetes Care, 2019
OBJECTIVE Previously generated genetic risk scores (GRSs) for type 1 diabetes (T1D) have not captured all known information at non-HLA loci or, particularly, at HLA risk loci.
S. Sharp, S. Rich, A. Wood, S. Jones, R. Beaumont, Jamie W. Harrison, Darius A. Schneider, J. Locke, J. Tyrrell, M. Weedon, W. Hagopian, R. Oram   +11 more
semanticscholar   +1 more source

Sweat testing infants detected by cystic fibrosis newborn screening

, 2012
OBJECTIVE: Describe and define limitations of early pilocarpine iontophoresis (sweat testing) for cystic fibrosis (CF) newborn screening (NBS). STUDY DESIGN: Population-based results from follow-up of CF NBS-positive newborns.
Dorkin, Henry L., Gerstle, Robert, O'Sullivan, Brian P., Parad, Richard B., Dovey, Mark, Comeau, Anne Marie, Martin, Thomas   +6 more
core   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening

, 2009
OBJECTIVE: Our goal was to describe the clinical spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by routine newborn screening and assess factors associated with elevations of octanoylcarnitine in newborns and characteristics ...
Grady, George F., Hsu, Ho-Wen, Strauss, Arnold W., Zytkovicz, Thomas H., Comeau, Anne Marie, Marsden, Deborah, Shih, Vivian E., Eaton, Roger B.   +7 more
core   +1 more source