Results 61 to 70 of about 39,378 (276)
Inborn Errors of Energy Metabolism Associated with Myopathies [PDF]
, 2010 Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy ...
Das, Anibh M. +2 more
core +4 more sources
Materials Advances in Devices for Heart Disease Interventions
Advanced Materials, EarlyView.This review examines the crucial role of materials in heart disease interventions, focusing on strategies for monitoring, managing, and repairing heart conditions. It discusses the material requirements for medical devices, highlighting recent innovations and their impact on cardiovascular health.
Gagan K. Jalandhra +11 more
wiley +1 more source
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group [PDF]
, 2016 There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different ...
Ben Omran, T +11 more
core +1 more source
Advanced Science, Volume 12, Issue 17, May 8, 2025.Sturge‐Weber syndrome (SWS) is characterized by leptomeningeal vascular malformations, leading to seizures and stroke. Analysis of 119 446 brain cells from SWS patients uncovered distinct cell heterogeneity and identified an EDN3⁺ meningeal fibroblast cluster, with WNT5A emerging as a potential key driver of SWS progression and a promising therapeutic ...
Daosheng Ai +14 more
wiley +1 more source
Dialogues in Clinical Neuroscience, 2018 Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly disturbed and in fact, as far as biochemistry is involved, any kind of ...
J. Saudubray, A. Garcia-Cazorla
semanticscholar +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
Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]
, 2006 Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C. +4 more
core +1 more source
Nanotherapy for Neural Retinal Regeneration
Advanced Science, EarlyView.Nanotechnology enhances ophthalmic treatments by improving drug delivery and regenerating ocular tissues, combating vision loss from retinal diseases through innovative nano‐systems. This review outlines ocular anatomy, pathology, immune microenvironment, and barriers, detailing nanocarrier characteristics, classification, and preparation methods, and ...
Chuyao Yu +11 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
LABRAD : Vol 41, Issue 3 - December 2015 [PDF]
, 2015 Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
core +1 more source