Results 71 to 80 of about 13,856,572 (229)
, 2017 The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV (GSD IV). We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia.
Marie-Anne Brundler +2 more
core +1 more source
The regulation of stem cell fate and its application in neural regeneration
Interdisciplinary Medicine, EarlyView.Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He +3 more
wiley +1 more source
GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction
Interdisciplinary Medicine, EarlyView.Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao +10 more
wiley +1 more source
JPGN Reports, EarlyView.Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Tierra L. Mosher +6 more
wiley +1 more source
Mass Spectrometry Insights Into Post‐Translational Modifications in Extracellular Vesicles
Mass Spectrometry Reviews, EarlyView.ABSTRACT Extracellular vesicles (EVs) are membrane‐enclosed structures secreted by virtually all living cells, serving as essential mediators of intercellular communication in both physiological and pathological processes. There is growing interest in their potential applications as biomarkers, therapeutic targets, and drug delivery systems, which ...
Dávid Virág +5 more
wiley +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso +4 more
wiley +1 more source
Glycogen storage disease type IV, amylopectinosis. [PDF]
Archives of Disease in Childhood, 1968 B, Levin, E A, Burgess, P E, Mortimer
openaire +5 more sources
, 1971 Fibroblasts have been developed from skin biopsies obtained from 3 children with type IV glycogen storage disease (amylopectinosis) and have been shown to be profoundly deficient in branching enzyme activity.
Brown, Barbara I +2 more
core +1 more source
Environmental Toxicology, EarlyView.ABSTRACT Ascidians are invertebrates that occupy a key phylogenetic position as a sister group of the vertebrates. The organization of their central nervous system (CNS), with cortex and medulla, indicates a plesiomorphic character of the gray and white matter of vertebrates, making this group of animals useful for studies of neurodegenerative events ...
Andressa de Abreu Mello +4 more
wiley +1 more source
A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT
, 2021 Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency.
Meryem Karaca +3 more
core +1 more source