Results 31 to 40 of about 17,404,319 (246)

Glycogen Storage Disease Type Ib: The First Case in Taiwan

, 2011
Glycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6- phosphatase, was the ...
HSIAO, HUI-JU;CHANG, HSIU-HAO;HWU, WUH-LIANG;LAM, CHING-WAN;LEE, NI-CHUNG;CHIEN, YIN-HSIU, 蕭惠如;張修豪;胡務亮;林青雲;李妮鍾;簡穎秀   +1 more
core   +1 more source

Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry. [PDF]

, 2019
BACKGROUND Regular carbohydrate intake to avoid hypoglycemia is the mainstay of dietary treatment in glycogen storage disease type I (GSDI). The aim of this study was to evaluate the quality of dietary treatment and glycemic control in a cohort of ...
Kaiser, Nathalie, Baumgartner, Matthias R, Hochuli, Michel, Bosanska, Lenka, Meienberg, Fabian, Spinas, Giatgen A, Gautschi, Matthias   +6 more
core   +1 more source

Late-onset Pompe disease in a patient with cerebellar hemorrhage [PDF]

Анналы клинической и экспериментальной неврологии
Pompe disease (glycogen storage disease type II) is a rare autosomal recessive multisystem disorder characterized by the deposition of glycogen in skeletal muscles and internal organs.
Vitalii V. Goldobin, Elena G. Klocheva, Tatyana G. Vstavskaya, Khosiddin F. Yuldashev, Alexandra D. Munasipova   +4 more
doaj   +1 more source

Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

Arquivos de Neuro-Psiquiatria
Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot ...
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Nádia Sugano Higashi, Vânia D'Almeida, Lineu Cesar Werneck, Rosana Herminia Scola   +5 more
doaj   +1 more source

Anaesthetic management of a patient with Pompe disease for kyphoscoliosis correction

Indian Journal of Anaesthesia, 2016
Pompe disease (PD) is a type II glycogen storage disease, characterised by abnormal glycogen deposition, mainly in heart and skeletal muscles, leading to progressive loss of muscle function.
Vaishali Kumbar, Jayashree Simha, Parameswara Gundappa   +2 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Chimerism after Liver Transplantation for Type IV Glycogen Storage Disease and Type 1 Gaucher's Disease [PDF]

, 1993
Background: Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known.
Kendall, Ross S, Ricordi, C, Kendall, RS, Zeevi, Adriana, Starzl, Thomas E, Van Thiel, David, Zeevi, A, Trucco, M, Terasaki, Paul I, Demetris, Anthony J, Ildstad, S, Kocova, M, Ricordi, Camillo, Van Thiel, D, Trucco, Massimo, Kocoua, M, Terasaki, PI, Murase, Noriko, Starzl, TE, Demetris, AJ, Ildstad, Suzanne, Rudert, WA, Kocova, Mirjana, Murase, N, Rudert, William A   +24 more
core   +1 more source

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

Molecular Oncology, EarlyView.
Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad, Silvio Carlo Ermanno Tosatto, Emanuela Leonardi   +2 more
wiley   +1 more source

Vascularized Liver‐on‐a‐Microsphere Reveals Alanine‐Glucose Metabolism‐Driven Regulation of Liver Function and Injury

Advanced Science, EarlyView.
A vascularized liver‐on‐a‐microsphere system is developed to recreate lobule‐like cellular organization and endothelial barrier function within compartmentalized hydrogel particles. The platform enhances hepatic performance and reveals alanine‐glucose cycle activation linked to improved detoxification capacity, offering a high‐throughput microscale ...
Jingyang Li, Zengnan Wu, Yingrui Zhang, Shulang Chen, Yongning Lin, Shiyu Chen, Tong Xu, Xianli Meng, Yi Zhang, Jin‐Ming Lin   +9 more
wiley   +1 more source

USP5 Stabilizes TGFBR1 to Drive Vascular Smooth Muscle Cell Senescence and Atherosclerosis

Advanced Science, EarlyView.
This study reveals that USP5 drives vascular smooth muscle cell senescence and atherosclerosis by stabilizing TGFBR1, suppressing IDH2, and promoting glycolytic reprogramming, identifying the USP5‐TGFBR1‐IDH2 axis as a potential therapeutic target. ABSTRACT Vascular smooth muscle cell (VSMC) senescence contributes importantly to atherosclerotic plaque ...
Xinhai Cui, Yuanlong Hu, Lin Lin, Lei Zhang, Chao Li, Yunlun Li   +5 more
wiley   +1 more source