Results 71 to 80 of about 63,582 (298)

Characterization of recombinant human lysosomal beta-hexosaminidases produced in the methylotrophic yeast Pichia pastoris

Universitas Scientiarum, 2016
β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded byHEXA and HEXB genes, respectively.
Angela Johana Espejo Mojica, Angela Rocío Mosquera, Edwin Alexander Rodríguez-López, Dennis Johana Díaz, Laura Milena Betrán, Francy Liliana Hernández, Carlos Javier Alméciga Díaz, Luis Alejandro Barrera   +7 more
doaj   +1 more source

Incidence, Risk Factors and Management of Adverse Events in Contemporary Real‐World Care of Children with Juvenile Idiopathic Arthritis

Arthritis Care &Research, Accepted Article.
Objective We describe the frequency, risk factors, severity, and management of actionable and serious adverse events (AAE and SAE) in children with newly diagnosed Juvenile Idiopathic Arthritis (JIA) in Canada. Methods We enrolled patients within 3 months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry,
Bashayer Alnuaimi, Roberta A. Berard, Jean‐Philippe Proulx‐Gauthier, Heinrike Schmeling, Michelle Batthish, Gilles Boire, Adam M. Huber, Dax G. Rumsey, Jaime Guzman, Gaëlle Chédeville, The CAPRI registry Investigators   +10 more
wiley   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Occasional seizures, epilepsy, and inborn errors of metabolism

, 2014
Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement ...
Dulac, Olivier, Gataullina, Svetlana, Gataullina, S., Wolf, N.I., Dulac, O., Plecko, B., Wolf, Nicole I, Plecko, Barbara   +7 more
core   +1 more source

Supporting data for Inborn Errors of Immunity and Coronavirus Disease 2019

, 2023
Metadata for publications related to the thesis Inborn Errors of Immunity and Coronavirus Disease 2019, including data on a novel inborn error of immunity, reactogenicity and immunogenicity data from a COVID-19 vaccine trial in adolescents, effectiveness
Daniel Leung (9392009)
core   +1 more source

Strategic Design of Soft Actuators in Translational Medical Robotics for Human‐Centered Healthcare

Advanced Robotics Research, EarlyView.
Soft robotics enables biocompatible, compliant medical devices, but clinical translation requires design‐driven engineering beyond materials. This perspective reviews implantable, surgical, and wearable systems by actuation mechanism, highlighting how optimized architectures and integration improve mechanical interfacing, adaptability, and durability ...
Ho Jun Jin, Jimin Kim, Inho Kim, Bong Hoon Kim   +3 more
wiley   +1 more source

Inborn Errors of Metabolism

, 2017
Until now, most studies on the pathophysiological mechanisms of inborn errors of metabolism have almost exclusively focused on the measurement of concentrations of different metabolites in plasma, urine, or cerebrospinal fluid.
Frits A. Wijburg, Ronald J.A. Wanders, Wanders, Ronald J.A., Hidde H. Huidekoper, Huidekoper, Hidde; id_orcid, Wijburg, Frits A.   +5 more
core   +1 more source

Chiral Nanoparticles Suppress Inflammatory Infiltration to Promote Extracellular Matrix Remodeling for Ectopia Lentis Therapy

Advanced Science, EarlyView.
L‐cysteine‐configured chiral polyurethane nanoparticles suppress ocular inflammation and reduce extracellular matrix (ECM) degradation in ectopia lentis by regulating macrophages polarization and inhibiting nuclear factor kappa B signaling pathway. By promoting zonular fiber‐associated protein restoration and tissue repair, this minimally invasive ...
Yinuo Wen, Yan Yang, Haihan Gao, Yan Liu, Xinyue Wang, Linghao Song, Ruohong Li, Ao Miao, Jie Xu, Zhennan Zhao, Dan Li, Shenjie Peng, Linzhao Li, Min Zhang, Yonghang Liu, Liren Wang, Tianhui Chen, Yongxiang Jiang   +17 more
wiley   +1 more source

Screening for inborn errors of metabolism : report of a WHO scientific group [meeting held in Geneva from 20 to 26 November 1967] [PDF]

, 1968
Copy 2 of English, French and Spanish eds.
World Health Organization, WHO Scientific Group on Screening for Inborn Errors of Metabolism   +1 more
core  

Loss of E3 Ubiquitin Ligase RINES via CpG Methylation Relieves Suppression of STAT3 and MYC, Facilitating Multiple Tumorigeneses

Advanced Science, EarlyView.
Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li, Ka Man Ng, Xingsheng Shu, Xiaoxue Chai, Kai Yau Wong, Gopesh Srivastava, Anthony T.C. Chan, Wai Yee Chan, Qian Tao   +8 more
wiley   +1 more source