Results 71 to 80 of about 39,998 (271)
Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]
, 2006 Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth +2 more
core +1 more source
Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]
, 2014 The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia +2 more
core +1 more source
Fabrication, Properties, and Applications of Scaffolds for Bone Tissue Regeneration
Advanced Materials Technologies, EarlyView.This review explores cutting‐edge biomaterials and fabrication techniques for scaffolds in bone tissue regeneration. It conducts a critical comparison of various strategies, meticulously analyzes the key contradictions in the field, and outlines an integrated development path spanning from biomaterial selection to clinical application, while ...
Shangsi Chen, Min Wang
wiley +1 more source
Prevención de enfermedades genética en Las Tunas, nonestre de 2015
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016 Fundamento: la inclusión de pacientes en los programas de prevención de enfermedades genéticas facilita la toma de conductas oportunas con la participación de la familia, contribuyendo a mantener indicadores adecuados de salud genética en la población ...
Orlando Peña Mancebo +4 more
doaj
Hailey-Hailey disease: clinical, diagnostic and therapeutic update [PDF]
Anais Brasileiros de DermatologiaHailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes.
Adriana Maria Porro +5 more
doaj +1 more source
Advanced Materials Technologies, EarlyView.This review outlines how understanding bone's biology, hierarchical architecture, and mechanical anisotropy informs the design of lattice structures that replicate bone morphology and mechanical behavior. Additive manufacturing enables the fabrication of orthopedic implants that incorporate such structures using a range of engineering materials ...
Stylianos Kechagias +4 more
wiley +1 more source
Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]
, 2017 Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core +2 more sources
NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction
Advanced Science, EarlyView.NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu +15 more
wiley +1 more source
Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs
The Journal of Clinical Investigation, 2023 Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
doaj +1 more source
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]
, 2019 Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R +6 more
core +1 more source