Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation [PDF]
Gut and Liver, 2009 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues.
Young Nyun Park
exaly +4 more sources
Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder [PDF]
Frontiers in Neurology, 2023 Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Joseph R. Abraham +5 more
doaj +2 more sources
Parkinson’s Disease Gene Biomarkers Screened by the LASSO and SVM Algorithms
Brain Sciences, 2023 Parkinson’s disease (PD) is a common progressive neurodegenerative disorder. Various evidence has revealed the possible penetration of peripheral immune cells in the substantia nigra, which may be essential for PD. Our study uses machine learning (ML) to
Yiwen Bao +4 more
doaj +2 more sources
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study [PDF]
Biomedicines, 2023 Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges
Matheus Vernet Machado Bressan Wilke +13 more
doaj +4 more sources
Journal of Lipid Research, 2017 Adult polyglucosan body disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss.
Rafael Alvarez +10 more
doaj +2 more sources
Geographical Variation Shapes Nutritional Metabolite Profile and Food Functionality of Houttuynia cordata [PDF]
MetabolitesBackground/Objectives: Houttuynia cordata Thunb., a widely consumed vegetable and traditional food in Asia, possesses significant nutritional value. However, the impact of geographical origin on its nutritional metabolite composition, crucial for food ...
Yuanyuan Zhang +8 more
doaj +2 more sources
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls [PDF]
Frontiers in Genetics, 2023 Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Matthew M. Gayed +4 more
doaj +2 more sources
The origin patterns, admixture, and selection signatures of the global gamecock populations [PDF]
Poultry ScienceThe gamecock is a special domestication product of chicken training for cockfighting. With the development of society, factors such as animal protection and social morality have led to a decline in the number of gamecocks.
Xufang Ren +7 more
doaj +2 more sources
Genetic diversity, population structure and selective sweeps in Italian Leccese chickens [PDF]
Poultry ScienceItaly hosts a rich heritage of poultry genetic resources, leading to the development of several unique native chicken breeds. Among them, the Leccese (LEC) chicken breed requires urgent genetic characterization to support conservation, development, and ...
Medhat S. Saleh +11 more
doaj +2 more sources
Recent Findings in N6-Methyladenosine Modification and Significance in Pancreatic Cancer. [PDF]
Cancer MedABSTRACT Background RNA modifications are widely detected in cells and are involved in RNA structural stabilization and regulation of gene expression. In cancer cells, RNA modifications are altered, resulting in abnormal expression of numerous genes and promoting cancer growth. N1‐methyladenosine (m1A), N6‐methyladenosine (m6A), N3‐methylcytosine (m3C),
Hara T +8 more
europepmc +2 more sources