Results 11 to 20 of about 2,774 (200)

Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum [PDF]

Case Reports in Medicine, 2012
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems.
Tolga Aksu, Ayse Colak, Omac Tufekcioglu
doaj   +2 more sources

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

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   +2 more sources

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.
박영년, 정기섭, 고홍
doaj   +2 more sources

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)

Data in Brief
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching.
Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari   +6 more
doaj   +2 more sources

Digital Terrain Models Generated with Low-Cost UAV Photogrammetry: Methodology and Accuracy

ISPRS International Journal of Geo-Information, 2021
Digital terrain model (DTM) generation is essential to recreating terrain morphology once the external elements are removed. Traditional survey methods are still used to collect accurate geographic data on the land surface.
Sergio Iván Jiménez-Jiménez, Waldo Ojeda-Bustamante, Mariana de Jesús Marcial-Pablo, Juan Enciso   +3 more
doaj   +2 more sources

Rubella antibodies in Australian immunoglobulin products [PDF]

Human Vaccines & Immunotherapeutics, 2017
Rubella antibodies are not routinely measured in immunoglobulin products and there is a lack of information on the titer in Australian products. To facilitate future studies of the effectiveness of passive immunisation for preventing rubella and ...
Megan K. Young, Joseph Bertolini, Pushpa Kotharu, Darryl Maher, Allan W. Cripps   +4 more
doaj   +2 more sources

The potential of dietary treatment in patients with glycogen storage disease type IV [PDF]

, 2021
There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV.
Patrick T. Ryan, Dariusz Rokicki, Fokkert-Wilts, Marieke, Szymańska, Edyta, Weinstein, David A, Hubert P. J. van der Doef, Rokicki, Dariusz, David A. Weinstein, Derks, Terry G J; id_orcid, de Boer, Foekje, Terry G. J. Derks, Marieke Fokkert‐Wilts, Edyta Szymańska, Ryan, Patrick T, Foekje de Boer, Derks, Terry G J, van der Doef, Hubert P J, Marius C. van den Heuvel, Peeks, Fabian; id_orcid, van den Heuvel, Marius C, Fabian Peeks, Peeks, Fabian   +21 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

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