A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
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
Nitrogen-Doped Biochar Derived from Starch for Enzyme-Free Colorimetric Detection of Uric Acid in Human Body Fluids. [PDF]
Ye F +6 more
europepmc +1 more source
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
MEDT 331/HLSC 47 Renal Physiology and Body Fluids Analysis
Course syllabus for MEDT 331/HLSC 47C Renal Physiology and Body Fluids Analysis Course description: Urinary tract structure, function and pathology are presented.
Reardanz, Jean
core
Distribution of bacterial etiologic agents and antimicrobial susceptibility patterns in sterile body fluids collected at Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia. [PDF]
Bayu SG +4 more
europepmc +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
MEDT 331 Renal Physiology and Body Fluids Analyses
Course syllabus for MEDT 331 Renal Physiology and Body Fluids Analyses Course description: This course introduces the medical technology student to the analysis of urine and the principles of urine testing.
Meyer, P. +2 more
core
To test or not to test for body fluids: integration of body fluid identification and direct PCR in one workflow. [PDF]
Medina-Paz F +4 more
europepmc +1 more source
Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier +3 more
wiley +1 more source
Mass Spectrometry-Based Comparative Analysis of <i>N</i>-Glycosylation Alterations in Three Human Body Fluids in Parkinson's Disease. [PDF]
Zhao L +7 more
europepmc +1 more source

