Results 61 to 70 of about 58,838 (349)
Case-control study about the acceptance of Pegvaliase in Phenylketonuria
Molecular Genetics and Metabolism Reports, 2020 Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj +1 more source
Frontiers in Genetics, 2019 This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectrometry (TMS) and gene diagnosis by next-generation sequencing (NGS). First, we described the characteristics of gene variants in Jiangsu Province.
Yuqi Yang +5 more
semanticscholar +1 more source
Microphysiological Systems of Lymphatics and Immune Organs
Advanced Healthcare Materials, EarlyView.This review surveys recent progress in engineering lymphatic microenvironments and immune organoids within microphysiological systems, emphasizing innovative strategies to recreate the biochemical and biophysical complexity of native lymphatic tissues.
Ishita Jain +2 more
wiley +1 more source
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
, 2013 Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
Targeted next generation sequencing in patients with inborn errors of metabolism [PDF]
, 2018 BACKGROUND: Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster.
Armstrong i Morón, Judith +9 more
core +1 more source
Progressive Insights into 3D Bioprinting for Corneal Tissue Restoration
Advanced Healthcare Materials, EarlyView.This review explores the potential of 3D bioprinting to replicate the complex structure and function of the human cornea. It highlights key advances in bioink development, printing modalities, and in vivo performance, while addressing current challenges and emerging strategies. The review emphasizes bioprinting's promise to overcome donor shortages and
Ilayda Namli +6 more
wiley +1 more source
Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay
Heliyon, 2022 Background: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which activates intracellular accumulation of ...
Eliana Benincore-Flórez +6 more
doaj +1 more source
Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]
, 2017 Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang +3 more
core +1 more source
Probiotic‐Based Materials as Living Therapeutics
Advanced Materials, EarlyView.Recent advances in Engineered Living Materials are highlighted, integrating synthetic biology and advanced materials, with a focus on probiotic‐based therapeutics. Probiotic Living Materials hold great potential for biosensing, infection treatment, osteogenesis, wound healing, vaginal and gastrointestinal disorders, and cancer therapy. breakthroughs in
Laura Sabio +2 more
wiley +1 more source
Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.
Annals of Translational Medicine, 2018 Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function presenting as complicated ...
Marisha G Agana +4 more
semanticscholar +1 more source