Results 41 to 50 of about 6,242,042 (194)

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis

Annals of Hepatology, 2018
Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change.
Zhi-yuan Chen, Yu-pin Liu, Guang-juan Zheng   +2 more
doaj   +1 more source

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report

Journal of Medical Case Reports
Background Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects.
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian   +3 more
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Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

Frontiers in Neurology, 2022
BackgroundGlycogen storage disease (GSDs) is characterized by abnormally inherited glycogen metabolism. GSD IXd, which is caused by mutations in the PHKA1 gene, is an X-linked rare disease with mild myopathic symptoms.
Kun Huang, Kun Huang, Hui-Qian Duan, Hui-Qian Duan, Qiu-Xiang Li, Qiu-Xiang Li, Yue-Bei Luo, Yue-Bei Luo, Fang-Fang Bi, Fang-Fang Bi, Huan Yang, Huan Yang   +11 more
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Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
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Mutation analysis of in a patient with glycogen storage disease-type Ib

Journal of International Medical Research, 2019
Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I.
Yamei Zhang, Huihui Sun, Naijun Wan
doaj   +1 more source

Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report

Journal of Medical Case Reports, 2008
Introduction Growth retardation is one of the cardinal manifestations of glycogen storage disease type Ia. It is unclear which component of the growth hormone and/or insulin-like growth factor axis is primarily disrupted, and management of growth ...
Dagdelen Selcuk, Atmaca Aysegul, Alikasifoglu Ayfer, Erbas Tomris   +3 more
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Sonographic findings in type I glycogen storage disease

, 2001
PURPOSE: The aim of this study was to document the sonographic appearance and dimensions of the liver and spleen in patients affected by type I glycogen storage disease and to correlate those findings with laboratory data to evaluate the potential role ...
L. Fiori, A. Botta, C. Melgara, C. Pozzato, M.L. Giannì, E. Riva   +5 more
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Delayed Diagnosis of Glycogen Storage Disease Type III

, 2012
A case of a delayed diagnosis in adult age of a glycogen storage disease type III is ...
Flavio Faletra, Cont, Gabriele, Paolo Gasparini, MAGGIORE, Giuseppe, Martelossi, Stefano, Cunto, Angela De, Gasparini, Paolo, Angela De Cunto, Denise Cassandrini, Minen, Federico, Cassandrini, Denise, Federico Minen, Faletra, Flavio, Alessandro Ventura, Stefano Martelossi, Giuseppe Maggiore, Ventura, Alessandro, Gabriele Cont   +17 more
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A clinical case of glycogen disease type III in a child

Якутский медицинский журнал
Glycogenosis type III (Cori disease) is one of the most common glycogen storage diseases in the world. The disease is associated with a disorder of carbohydrate metabolism: glycogen metabolism, leading to disruption of its synthesis or breakdown and is ...
V. B. Egorova, T. E. Burtseva, Ya. A. Munkhalova, N. N. Innokentyeva, M. V. Khandy, M. A. Sharina   +5 more
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Protective effects of Ziziphus Jujube on clinical and paraclinical findings of glycogen storage disease Ib, a case report and literature review [PDF]

Journal of Advanced Biomedical Sciences, 2017
Background & Objectives: Glycogen storage disease type Ib is a metabolic disease of carbohydrate metabolism. Patients suffer from metabolic disorders as a result of insufficient production of glucose from glycogen, and recurrent infections due to ...
shahsanam Geibi, hadi esamili govarchin galeh, bahman mansori motlagh   +2 more
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