Results 91 to 100 of about 31,724,613 (234)
Mass Spectrometry Reviews, EarlyView.ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley +1 more source
X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males
Pediatrics and Neonatology, 2009 X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase
Szu-Ta Chen +6 more
doaj +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
BMC Medical GenomicsBackground Glycogen storage disease (GSD) is a disease caused by excessive deposition of glycogen in tissues due to genetic disorders in glycogen metabolism.
Ao Wang +4 more
doaj +1 more source
Obesity, EarlyView.ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee +2 more
wiley +1 more source
Obesity, EarlyView.ABSTRACT Objective High‐fat diet represses Ceacam1 transcription via a PPARα‐mediated mechanism to cause insulin resistance before inflammation develops. The current study investigated whether mutating PPRE‐RXRα in Ceacam1 promoter prevents diet‐induced metabolic abnormalities and hepatic fibrosis in male C57BL6/J mice.
Raziyeh Abdolahipour +9 more
wiley +1 more source
Efficacy of Gene Therapy in Dogs with Glycogen Storage Disease Type Ia
, 2009 Glycogen storage diseases (GSD) are inherited metabolic disorders that affect glycogen use and storage. People with GSD Ia lack the enzyme glucose-6-phosphatase (G6Pase).
Crane, Bayley
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The Journal of Pathology, EarlyView.Abstract Propionic acidemia (PA) is a neurometabolic disorder caused by propionyl‐CoA carboxylase deficiency with frequent neurological involvement, yet cell‐type‐specific mechanisms remain poorly defined. We established human induced pluripotent stem cell (iPSC)‐derived astrocytes (iAs) from patients harboring PCCA or PCCB mutations and investigated ...
Irene González‐Garnacho +5 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich +6 more
wiley +1 more source
A case of glycogen storage disease Type III
, 1996 Glycogen storage diseases (GSD) are hereditary metabolic disorders leading to the storage in cells of glycogen of normal or abnormal structure.
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