Results 11 to 20 of about 13,856,572 (229)

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

Journal of Inherited Metabolic Disease, 2020
AbstractThere 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. In light of the success of dietary treatment for the other hepatic forms of GSD, we have initiated this observational ...
Terry G. J. Derks, Fabian Peeks, Foekje de Boer, Marieke Fokkert‐Wilts, Hubert P. J. van der Doef, Marius C. van den Heuvel, Edyta Szymańska, Dariusz Rokicki, Patrick T. Ryan, David A. Weinstein   +9 more
core   +7 more sources

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV [PDF]

JIMD Rep, 2015
Deficiency of glycogen branching enzyme in glycogen storage disease type IV (GSD IV) results in accumulation of less-branched and poorly soluble polysaccharides (polyglucosan bodies) in multiple tissues. Standard enzymatic method, when used to quantify glycogen content in GSD IV tissues, causes significant loss of the polysaccharides during preparation
Yi, Haiqing, Zhang, Quan, Yang, Chunyu, Kishnani, Priya S, Sun, Baodong   +4 more
core   +4 more sources

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

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   +3 more sources

A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV [PDF]

JIMD Rep, 2014
Human chitinolytic enzyme named "chitotriosidase" takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients with Gaucher disease.
Sag, ERDAL, AYDEMIR, YUSUF, YUCE, AYSEL, BERBEROGLU-ATES, B, AKCOREN, ZUHAL, HIZARCIOGLU-GULSEN, H, CEYLANER, S   +6 more
core   +6 more sources

Placental Involvement in Glycogen Storage Disease Type IV

Placenta, 2008
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen branching enzyme (GBE) deficiency and resulting in the storage of abnormal glycogen (polyglucosan). Prenatal diagnosis is based on biochemical assay of GBE activity or on mutation analysis, but polyglucosan can also be identified histologically in fetal ...
Konstantinidou, A.E., Anninos, H., Dertinger, S., Nonni, A., Petersen, M., Karadimas, C., Havaki, S., Marinos, E., Akman, H.O., DiMauro, S., Patsouris, E.   +10 more
core   +5 more sources

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

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   +2 more sources

Prenatal diagnosis of glycogen storage disease type IV

Prenatal Diagnosis, 2006
AbstractBackgroundGlycogen storage disease type IV (GSD‐IV) is a rare autosomal recessive disorder due to mutations in the GBE1 gene causing deficiency of the glycogen branching enzyme (GBE). Prenatal diagnosis has occasionally been performed by the measurement of the GBE activity in cultured chorionic villi (CV) cells.MethodsTwo unrelated probands ...
H Orhan, Akman, Charalampos, Karadimas, Yolanda, Gyftodimou, Maria, Grigoriadou, Haris, Kokotas, Anastasia, Konstantinidou, Hector, Anninos, Efstratios, Patsouris, Harshwardhan M, Thaker, Jeffrey B, Kaplan, Isaam, Besharat, Konstantina, Hatzikonstantinou, Spyridon, Fotopoulos, Salvatore, Dimauro, Michael B, Petersen   +14 more
core   +6 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 [PDF]

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   +2 more sources

Chimerism after Liver Transplantation for Type IV Glycogen Storage Disease and Type 1 Gaucher's Disease [PDF]

New England Journal of Medicine, 1993
Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known.We studied two patients with type IV glycogen storage disease 37 and 91 months after liver transplantation and a third patient with lysosomal ...
Starzl, TE, Demetris, AJ, Trucco, M, Ricordi, C, Ildstad, S, Terasaki, PI, Murase, N, Kendall, RS, Kocova, M, Rudert, WA, Zeevi, A, Van Thiel, D   +11 more
openaire   +4 more sources

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease [PDF]

JIMD Reports
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1, resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen (“polyglucosan”).
Rebecca L. Koch, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter   +13 more
doaj   +2 more sources