scholarly journals Characterization of high- and low-risk hepatocellular adenomas by magnetic resonance imaging in an animal model of glycogen storage disease type 1A

2019 ◽  
Vol 12 (4) ◽  
pp. dmm038026
Author(s):  
Roberta Resaz ◽  
Francesca Rosa ◽  
Federica Grillo ◽  
Luca Basso ◽  
Daniela Segalerba ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Animal Model ◽  
Magnetic Resonance ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Resonance Imaging ◽  
Hepatocellular Adenomas

Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I

2013 ◽  
Vol 58 (2) ◽  
pp. 350-357 ◽  
Author(s):  
Julien Calderaro ◽  
Philippe Labrune ◽  
Guillaume Morcrette ◽  
Sandra Rebouissou ◽  
Dominique Franco ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type I ◽  
Hepatocellular Adenomas

scholarly journals Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging

2020 ◽  
Vol 4 (3) ◽  
pp. 1-6
Author(s):  
Shawn Lyo ◽  
Jeremy Miles ◽  
Jay Meisner ◽  
Mark Guelfguat
Keyword(s):  
Magnetic Resonance Imaging ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Adult Onset ◽  
Resonance Imaging ◽  
Gadolinium Enhancement ◽  
Type Iv

Abstract Background Glycogen storage disease type IV (GSD IV; Andersen’s disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable involvement of hepatic, muscular, neurologic, dermatologic, and cardiac systems. Cardiomyopathy seen in GSD IV is also heterogeneous and its appearance on cardiac magnetic resonance imaging (CMR) is rarely described. Case summary A 29-year-old man without previous medical history was admitted to our facility multiple times over 2 years for focal sensorimotor deficits, gout arthropathy, chronic hyperlactataemia and hyperuricaemia, and severe decompensated non-ischaemic cardiomyopathy complicated by episodes of thromboembolic organ infarction. Echocardiography and CMR showed severe biventricular failure with the presence of intraventricular thrombi with increased right ventricular trabeculation and absent late gadolinium enhancement. He underwent muscle biopsy which showed prominent glycogen in skeletal muscle followed by genetic testing showing a single heterozygous splicing mutation c.993-1G>T found at the junction of intron 7 and exon 8 of the GBE1 gene which had not previously been reported and was predicted to be pathologic. He was referred to a tertiary care centre with glycogen storage disease specialists but expired prior to establishing care at that facility. Discussion Discovery of GSD IV in our patient was unexpected due to a highly variant clinical presentation. Our case stresses the clinical heterogeneity of GSD IV and the importance of genetic sequencing studies in the evaluation of potential glycogen storage disease.

scholarly journals Cloning and Characterization of cDNAs Encoding a Candidate Glycogen Storage Disease Type 1b Protein in Rodents

1998 ◽  
Vol 273 (48) ◽  
pp. 31656-31660 ◽  
Author(s):  
Baochuan Lin ◽  
Borhane Annabi ◽  
Hisayuki Hiraiwa ◽  
Chi-Jiunn Pan ◽  
Janice Yang Chou
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

2010 ◽  
Vol 33 (S3) ◽  
pp. 83-90 ◽  
Author(s):  
Sing-Chung Li ◽  
Chiao-Ming Chen ◽  
Jennifer L. Goldstein ◽  
Jer-Yuarn Wu ◽  
Emmanuelle Lemyre ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Novel Mutations ◽  
Type Iv

scholarly journals Erratum: Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

2012 ◽  
Vol 57 (3) ◽  
pp. 221-221
Author(s):  
Amira Mili ◽  
Ilhem Ben Charfeddine ◽  
Ons Mama ◽  
Sonia Abdelhak ◽  
Labiba Adala ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Biochemical Characterization ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iii ◽  
Tunisian Patients
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