Cargando…

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

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. We describe two cases, a 23-year-old girl with dilated cardiomyopathy who presented...

Descripción completa

Detalles Bibliográficos
Autores principales:	Aksu, Tolga, Colak, Ayse, Tufekcioglu, Omac
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463931/ https://www.ncbi.nlm.nih.gov/pubmed/23056054 http://dx.doi.org/10.1155/2012/764286

Ejemplares similares

Liver Transplantation for Glycogen Storage Disease Type IV
por: Liu, Min, et al.
Publicado: (2021)

Prevalence of cardiac involvement in home-based recovered coronavirus disease 2019 (COVID-19) patients: a retrospective observational study
por: Çakmak Karaaslan, Özge, et al.
Publicado: (2021)

Glycogen storage disease type IV: a case report.
por: Lee, K. Y., et al.
Publicado: (1998)

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology
por: Ichimoto, Keiko, et al.
Publicado: (2020)

The potential of dietary treatment in patients with glycogen storage disease type IV
por: Derks, Terry G. J., et al.
Publicado: (2020)

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI
por: Grünert, Sarah Catharina, et al.
Publicado: (2021)

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI
por: Massese, Miriam, et al.
Publicado: (2022)

Mechanical index
por: Şen, Taner, et al.
Publicado: (2015)

Naples Prognostic Score and Clinical Outcomes in Pulmonary Arterial Hypertension Patients
por: Arugaslan, Emre, et al.
Publicado: (2023)

Glycogen storage disease in two sisters: A case report
por: Twanabasu, Sajal, et al.
Publicado: (2023)

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
por: Choi, So Yoon, et al.
Publicado: (2018)

Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia
por: Perry, Ariane, et al.
Publicado: (2020)

Arrhythmogenic Noncompaction Cardiomyopathy: Is There an Echocardiographic Phenotypic Overlap of Two Distinct Cardiomyopathies?
por: Aras, Dursun, et al.
Publicado: (2015)

Neural correlates of adaptive working memory training in a glycogen storage disease type‐IV patient
por: Lee, Kristin, et al.
Publicado: (2017)

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV
por: Bezirganoglu, Handan, et al.
Publicado: (2023)

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
por: Li, Yiyang, et al.
Publicado: (2022)

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities
por: Szymańska, Edyta, et al.
Publicado: (2017)

Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib
por: Grünert, Sarah Catharina, et al.
Publicado: (2022)

Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients
por: Hexner-Erlichman, Zufit, et al.
Publicado: (2022)

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III
por: Yu, Tingting, et al.
Publicado: (2023)

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV
por: Yi, Haiqing, et al.
Publicado: (2016)

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports
por: Luo, Xiaomei, et al.
Publicado: (2020)

Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review
por: Zhan, Qian, et al.
Publicado: (2021)

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center
por: Huang, Kun, et al.
Publicado: (2022)

Liver transplantation in glycogen storage disease type I
por: Boers, Susanna JB, et al.
Publicado: (2014)

Pulmonary Hypertension in Glycogen Storage Disease Type II
por: Li, Hui-Ping, et al.
Publicado: (2018)

Glycogen storage diseases: An update
por: Gümüş, Ersin, et al.
Publicado: (2023)

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
por: Choi, Rihwa, et al.
Publicado: (2016)

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging
por: Lyo, Shawn, et al.
Publicado: (2020)

Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia
por: den Hollander, N. C., et al.
Publicado: (2007)

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study
por: Wilke, Matheus Vernet Machado Bressan, et al.
Publicado: (2023)

Glycogen storage disease type 1a in the Ohio Amish
por: Scott, Ethan M., et al.
Publicado: (2022)

Choice of diagnostic method for liver‐type glycogen storage disease
por: Kakiuchi, Toshihiko, et al.
Publicado: (2022)

French recommendations for the management of glycogen storage disease type III
por: Wicker, Camille, et al.
Publicado: (2023)

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
por: Soggia, Ana Priscila, et al.
Publicado: (2010)

Next-generation glycogen storage diseases
por: Derks, Terry G. J., et al.
Publicado: (2018)

Biomarkers in Glycogen Storage Diseases: An Update
por: Molares-Vila, Alberto, et al.
Publicado: (2021)

Selvester score predicts implantable cardioverter defibrillator shocks in patients with non‐ischemic cardiomyopathy
por: Arısoy, Fazıl, et al.
Publicado: (2021)

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families
por: Grünert, Sarah C., et al.
Publicado: (2021)

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing
por: Beyzaei, Zahra, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_4fm7k0sariol38nqtonssmnieu