Results 11 to 20 of about 1,825,008 (215)

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

JCI Insight
Background Glycogen storage disease type IV (GSD IV) is an ultrarare autosomal recessive disorder that causes deficiency of functional glycogen branching enzyme and formation of abnormally structured glycogen termed polyglucosan. GSD IV has traditionally
Rebecca L. Koch, Bridget T. Kiely, Su Jin Choi, William R. Jeck, Leticia S. Flores, Vikrant Sood, Seema Alam, Gilda Porta, Katy LaVecchio, Claudia Soler-Alfonso, Priya S. Kishnani   +10 more
doaj   +2 more sources

Dear GSD

, 2021
My motivation for writing this thesis is my passion for using front-end design techniques to construct social justice in the digital domain and find solutions for particular design problems. This thesis proposes a digital platform to customize posters
Ye, Lei
core   +4 more sources

Glycogen Storage Disease Type I: Prognostic Factors and Treatment [PDF]

, 2023
Glycogen storage disease type I (GSD I) is an inherited disorder that hinders the ability of the liver to effectively break down stored glycogen, leading to difficulties in maintaining appropriate blood sugar levels. The main treatment for this aspect of
Kama, Vuyiswa, Moerane, Teboho, Alfred
core   +1 more source

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

DataSheet2_A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.docx

, 2022
Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent
Leticia Flores (13777504), Bridget T. Kiely (13777498), Rebecca L. Koch (13777501), Danielle Burner (13777507), Samantha Kaplan (12081064), Priya S. Kishnani (9214091)   +5 more
core   +1 more source

DataSheet1_A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.DOCX

, 2022
Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent
Leticia Flores (13777504), Bridget T. Kiely (13777498), Rebecca L. Koch (13777501), Danielle Burner (13777507), Samantha Kaplan (12081064), Priya S. Kishnani (9214091)   +5 more
core   +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

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

Scientific Reports, 2021
Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests.
Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Mohammad Hadi Imanieh, Mahmood Haghighat, Seyed Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Amirreza Jassbi, Marjan Mahboubifar, Alireza Alborzi   +10 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