Cargando…

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III

PURPOSE: Glycogen storage disease type III (GSDIII) is a uncommon autosomal recessive inherited metabolic disorder, which is caused by variants in the AGL gene. The purpose of this study was to elucidate the clinical and functional features of two novel variants in two families with GSDIIIa. METHODS...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yu, Tingting, Fu, Hao, Yang, Aoyu, Liang, Yan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243941/ https://www.ncbi.nlm.nih.gov/pubmed/37287601 http://dx.doi.org/10.1155/2023/6679871

Ejemplares similares

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III
por: Wang, Jing, et al.
Publicado: (2022)

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa
por: Zimmermann, Anca, et al.
Publicado: (2016)

The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa
por: Qu, Qianqian, et al.
Publicado: (2020)

Novel AGL variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report
por: Shindo, Akito, et al.
Publicado: (2023)

Glycogen debranching enzyme (AGL) is a novel regulator of non-small cell lung cancer growth
por: Richmond, Craig S., et al.
Publicado: (2018)

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

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)

CD44 and RHAMM are essential for rapid growth of bladder cancer driven by loss of Glycogen Debranching Enzyme (AGL)
por: Oldenburg, Darby, et al.
Publicado: (2016)

Glycogen storage disease type III: modified Atkins diet improves myopathy
por: Mayorandan, Sebene, et al.
Publicado: (2014)

Agl, The Multitasking Motor Protein
por: Hoff, Mary
Publicado: (2013)

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
por: Sentner, Christiaan P., et al.
Publicado: (2016)

PSUN249 Starvation Ketoacidosis as the Presenting Finding of Glycogen Storage Disorder Type III
por: Fiacco, Nicholas, et al.
Publicado: (2022)

Characterization of a canine model of glycogen storage disease type IIIa
por: Yi, Haiqing, et al.
Publicado: (2012)

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)

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)

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants
por: Shao, Yongxian, et al.
Publicado: (2022)

A new variant in PHKA2 is associated with glycogen storage disease type IXa
por: Rodríguez-Jiménez, Carmen, et al.
Publicado: (2017)

Expression of the Floral Repressor miRNA156 is Positively Regulated by the AGAMOUS-like Proteins AGL15 and AGL18
por: Serivichyaswat, Phanu, et al.
Publicado: (2015)

Glycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report
por: Ismail, Heba
Publicado: (2009)

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation
por: Ponzi, Emanuela, et al.
Publicado: (2019)

Diurnal variability of glucose tetrasaccharide (Glc(4)) excretion in patients with glycogen storage disease type III
por: Young, Sarah P., et al.
Publicado: (2020)

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
por: Hijazi, Ghada, et al.
Publicado: (2021)

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)

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)

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

A Case of Glycogen Storage Disease Type 1a Mimicking Familial Chylomicronemia Syndrome
por: Olgac, A, et al.
Publicado: (2021)

AglQ Is a Novel Component of the Haloferax volcanii N-Glycosylation Pathway
por: Arbiv, Adi, et al.
Publicado: (2013)

Geneotype and phenotype in 20 patients with glycogen storage disease type Ia
por: Liang, Cuili, et al.
Publicado: (2013)

Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III
por: FRANCINI-PESENTI, FRANCESCO, et al.
Publicado: (2019)

Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature
por: Massimino, Elena, et al.
Publicado: (2023)

Characterization and Expression Analysis of PtAGL24, a SHORT VEGETATIVE PHASE/AGAMOUS-LIKE 24 (SVP/AGL24)-Type MADS-Box Gene from Trifoliate Orange (Poncirus trifoliata L. Raf.)
por: Sun, Lei-Ming, et al.
Publicado: (2016)

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

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

Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum
por: Aksu, Tolga, et al.
Publicado: (2012)

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

Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly
por: Kim, Jung Ah, et al.
Publicado: (2015)

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

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

Cannot write session to /tmp/vufind_sessions/sess_mah1g058i45es9k6o340h20kbd