Results 71 to 80 of about 28,187 (220)

Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Early recognition of hepatomegaly, hypoglycemia, and elevated liver enzymes in infants is crucial for diagnosing glycogen storage disease. Liver biopsy with PAS–diastase staining provides definitive confirmation. Prompt metabolic management and regular follow‐up are essential to prevent progression of fibrosis and long‐term hepatic ...
Rajat Kumar Shah, Sajjad Ahmed Khan, Dikshya Devkota, Manjisha Aryal, Nishan Subedi, Basna Aryal, Binita Gurubacharya, Shamin Parajuli, Ashwini Gupta, Surya Bahadur Parajuli, Huma Kausar   +10 more
wiley   +1 more source

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report

Journal of Medical Case Reports
Background Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects.
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian   +3 more
doaj   +1 more source

Metabolic constraint of human telomere length by nucleotide salvage efficiency

Nature Communications
Human telomere length is tightly regulated and associated with diseases at either extreme, but how these bounds are established remains incompletely understood.
William Mannherz, Andrew Crompton, Noah Lampl, Suneet Agarwal   +3 more
doaj   +1 more source

Glycogen storage disease due to phosphorylase kinase deficiency [PDF]

, 2020
INSERM
openalex   +1 more source

Pravastatin Protects Against Avascular Necrosis of Femoral Head via Autophagy

Frontiers in Physiology, 2018
Autophagy serves as a stress response and may contribute to the pathogenesis of avascular necrosis of the femoral head induced by steroids. Statins promote angiogenesis and ameliorate endothelial functions through apoptosis inhibition and necrosis of ...
Yun Liao, Yun Liao, Ping Zhang, Bo Yuan, Ling Li, Shisan Bao, Shisan Bao   +6 more
doaj   +1 more source

Intersubunit communication in glycogen phosphorylase influences substrate recognition at the catalytic sites

Amino Acids
Glycogen phosphorylase (GP) is biologically active as a dimer of identical subunits, each activated by phosphorylation of the serine-14 residue. GP exists in three interconvertible forms, namely GPa (di-phosphorylated form), GPab (mono-phosphorylated ...
Nahori Kamada, Ayato Ikeda, Yasushi Makino, Hiroshi Matsubara   +3 more
doaj   +1 more source

A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review

BMC Medical Genetics, 2019
Background PHKA2 gene mutations can cause liver phosphorylase kinase (PhK) deficiency, resulting in glycogen storage disease type IXa (GSD IXa). Elevated liver transaminase levels and liver enlargement are the most frequent phenotypes of GSD IXa. However,
Junling Fu, Tong Wang, Xinhua Xiao
doaj   +1 more source

Reversibility of phosphorylase kinase reaction.

Journal of Biological Chemistry, 1977
(Received for publication, May 17, 1976, and in revised form, January 3, 1977) YUTAKA SHIZUTA,$ RAMJI L. KHANDELWAL,~ JAMES L. MALLER,~ JACKIE R. VANDENHEEDE,~~ AND EDWIN G. KREBS** From the Department of Biological Chemistry, School of Medicine, University of California, Davis, California 95616 Using a highly purified enzyme from rabbit skeletal mus ...
Y, Shizuta, R L, Khandelwal, J L, Maller, J R, Vandenheede, E G, Krebs   +4 more
openaire   +2 more sources

Comprehensive structural and functional analysis of hVEGFR1: Insights into phosphorylation, molecular interactions, and potential inhibitors through docking and dynamics simulations

Cancer Treatment and Research Communications
Vascular Endothelial Growth Factor Receptor 1 (VEGFR1), is an enzyme with tyrosine kinase activity that plays a pivotal role in angiogenesis, the process of new blood vessel formation.
Manne Munikumar, Jangampalli Adi Pradeepkiran, Marineni Kiran Kumar, Swathi Banapuram, Akshatha Bhat Edurkala   +4 more
doaj   +1 more source

Computational and Pharmacological Evaluation of Ferrocene-Based Acyl Ureas and Homoleptic Cadmium Carboxylate Derivatives for Anti-diabetic Potential

Frontiers in Pharmacology, 2018
We investigated possible anti-diabetic effect of ferrocene-based acyl ureas: 4-ferrocenyl aniline (PFA), 1-(4-chlorobenzoyl)-3-(4-ferrocenylphenyl) urea (DPC1), 1-(3-chlorobenzoyl)-3-(4-ferrocenylphenyl) urea (DMC1), 1-(2-chlorobenzoyl)-3-(4 ...
Shahar Bano, Arif-ullah Khan, Faiza Asghar, Faiza Asghar, Muhammad Usman, Amin Badshah, Saqib Ali   +6 more
doaj   +1 more source