Results 111 to 120 of about 17,210 (294)
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
UTILIZATION OF SOME FAT SUBSTITUTES IN PROCESSING OF LOW FAT SAUSAGES [PDF]
S. El-Magoli, S. El-Naggar, H. Hemeida
doaj +1 more source
This study aimed to develop novel oleogels using whey protein (WP) and bacterial cellulose nanowhiskers (BCNW) to expand the potential applications of spent coffee grounds oil (SCGO).
Aikaterini Papadaki +2 more
doaj +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Composite emulsion gel can effectively mimic animal adipose tissue. In this study, composite emulsion gels composed of soy protein isolates and konjac glucomannan (KGM) were prepared as plant-based cubic fat substitutes (CFS).
Lai Wei +7 more
doaj +1 more source
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
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay +13 more
wiley +1 more source
An Analysis of the Consumption of Sausages in Scotland using Supermarket Data
This paper addresses consumers’ choices by looking into: current food choices made by different socio-economic groups; price barriers for diet improvement; and ways in which marketing may affect product choice.
Revoredo-Giha, Cesar +5 more
core +2 more sources
Technological aspects of fat substitutes and their applications in dairy products
The consumption of fat related to the incidence of diseases has motivated the development of food with less or even no fat. However, fat is important for the full functioning of the human body and sensory characteristics of food.
Jorge, Neuza [UNESP] +1 more
core

