Results 21 to 30 of about 2,774 (200)

Relationships among tissues, biofluids, and otolith selenium concentrations in wild female burbot (Lota lota)

Integrated Environmental Assessment and Management, EarlyView., 2023
Abstract In the Lake Koocanusa‐Kootenai River system (Montana, USA and British Columbia, Canada), selenium (Se) contamination has become an international concern and is suspected to contribute to the observed burbot (Lota lota) population collapse. Due to our limited ability to sample burbot in Lake Koocanusa for monitoring studies, we used a reference
Stephanie D. Graves, Noëlie Molbert, David M. Janz, Lauren D. Hayhurst, Jessica E. Brandt, Lauren Timlick, Vince P. Palace   +6 more
wiley   +1 more source

An uncommon cause of early infantile liver disease and raised chitotriosidase

JIMD Reports, 2020
Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosomal acid lipase
Srividya Sreekantam, Hina Rizvi, Rachel Brown, Saikat Santra, Julian Raiman, Suresh Vijay, Patrick J. Mckiernan, Girish L. Gupte   +7 more
doaj   +1 more source

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

Molecular Genetics and Metabolism Reports, 2020
Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs.
Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama   +13 more
doaj   +1 more source

Liver transplantation in glycogen storage disease: a single-center experience

Orphanet Journal of Rare Diseases, 2022
Background Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. GSDs of type I, III, IV, VI, and IX show liver involvement and are considered as hepatic types of GSDs.
Zahra Beyzaei, Alireza Shamsaeefar, Kurosh Kazemi, Saman Nikeghbalian, Ali Bahador, Masoud Dehghani, Seyed-Ali Malekhosseini, Bita Geramizadeh   +7 more
doaj   +1 more source

Clinical and pathological profile of Gallbladder Cancer (GBC) and Gallstone disease GSD) among the patients admitted in tertiary care institute in Kolkata

The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy, 2022
Background: Gallstone disease (GSD) is one of the most common surgical problems throughout the world. The rise in gallstone disease burden and its wide spectrum of non-specific presentation makes the disease more challenging. Gall bladder cancer (GBC) is
Abhishek Mohata, Mrinmoy Adhikary, Ranajit Bari, Shubho Chowdhuri, Pulak Kumar Jana, Vinoth Gnana Chellaiyan   +5 more
doaj   +1 more source

Lung cancer targeting efficiency of Silibinin loaded Poly Caprolactone /Pluronic F68 Inhalable nanoparticles: In vitro and In vivo study.

PLoS ONE, 2022
Silibinin (SB) is shown to have an anticancer properties. However, its clinical therapeutic effects have been restricted due to its low water solubility and poor absorption after oral administration.
Priya Patel, Mihir Raval, Aneka Manvar, Vishal Airao, Vaibhav Bhatt, Pranav Shah   +5 more
doaj   +2 more sources

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Molecular Genetics and Metabolism Reports, 2018
Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include
Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi   +7 more
doaj   +1 more source

Green-Agile Maturity Model: An Evaluation Framework for Global Software Development Vendors

IEEE Access, 2021
Agile methods are extensively adapted by software development organizations due to the competitive benefits it offers. In recent years global software development (GSD) projects practice agile methods as prominent methods to deliver the software in ...
Nasir Rashid, Siffat Ullah Khan, Habib Ullah Khan, Muhammad Ilyas   +3 more
doaj   +1 more source

Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center [PDF]

, 2023
Glycogen storage disease (GSD) is a hereditary metabolic disorder caused by enzyme deficiency resulting in glycogen accumulation in the liver, muscle, heart, or kidney. GSD types II, III, IV, and IX are associated with cardiac involvement.
Seyong Jung, Jowon Jung, Jaehee Seol, Yunkoo Kang, Hong Koh   +4 more
core   +2 more sources

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

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, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, Priya S. Kishnani, Rebecca L. Koch   +4 more
doaj   +1 more source