Cargando…

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

BACKGROUND: PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is mainly characterized in untreated children by hepatomegaly, growth retardation a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Luo, Xiaomei, Hu, Jiacheng, Gao, Xueren, Fan, Yanjie, Sun, Yu, Gu, Xuefan, Qiu, Wenjuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140494/ https://www.ncbi.nlm.nih.gov/pubmed/32268899 http://dx.doi.org/10.1186/s12881-020-01010-4

Ejemplares similares

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

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI
por: Wilson, Lane H., et al.
Publicado: (2019)

High PYGL Expression Predicts Poor Prognosis in Human Gliomas
por: Zhao, Chang-yi, et al.
Publicado: (2021)

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

PYGL-mediated glucose metabolism reprogramming promotes EMT phenotype and metastasis of pancreatic cancer
por: Ji, Qian, 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)

Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort
por: Tagliaferri, Francesco, et al.
Publicado: (2022)

A Novel Mutation in a Newborn Baby Leading to Glycogen Storage Disease Type Ia
por: Dorum, S, et al.
Publicado: (2018)

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
por: Xu, Shanshan, et al.
Publicado: (2017)

Identification of RUNX2 variants associated with cleidocranial dysplasia
por: Gao, Xueren, et al.
Publicado: (2019)

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases
por: Liang, Yan, et al.
Publicado: (2020)

Hepatic glycogenolysis is determined by maternal high-calorie diet via methylation of Pygl and it is modified by oteocalcin administration in mice
por: Kawakubo-Yasukochi, Tomoyo, et al.
Publicado: (2021)

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)

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

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases
por: Dong, Rui, et al.
Publicado: (2022)

Glycogen storage diseases: An update
por: Gümüş, Ersin, 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)

Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review
por: Zhu, Qian, et al.
Publicado: (2019)

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China
por: Zhang, Yu, et al.
Publicado: (2018)

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)

Cellular hierarchy framework based on single-cell/multi-patient sample sequencing reveals metabolic biomarker PYGL as a therapeutic target for HNSCC
por: Guan, Jiezhong, et al.
Publicado: (2023)

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
por: Zhang, Huiwen, et al.
Publicado: (2013)

miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL
por: Wang, Guowen, et al.
Publicado: (2022)

How could hypoglycemia-inducing glycogen storage disease lead to hyperglycemia-induced mucormycosis?
por: Nichols, Larry, et al.
Publicado: (2020)

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia
por: Zheng, Bi-Xia, et al.
Publicado: (2014)

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
por: Zhang, Huiwen, et al.
Publicado: (2014)

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)

Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone
por: Wu, Shimin, et al.
Publicado: (2022)

ON THE DIFFERING APPEARANCE OF INTRANUCLEAR AND CYTOPLASMIC GLYCOGEN IN LIVER CELLS IN GLYCOGEN STORAGE DISEASE
por: Sheldon, H., et al.
Publicado: (1962)

Systemic ablation of vitamin D receptor leads to skeletal muscle glycogen storage disorder in mice
por: Das, Anamica, et al.
Publicado: (2021)

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

Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis
por: Xu, Jiwen, et al.
Publicado: (2021)

Glycogen storage disease presenting as Cushing syndrome
por: Stefater, Margaret A., et al.
Publicado: (2019)

Neurological Characteristics of Pediatric Glycogen Storage Disease
por: Muzetti, Julio Henrique, et al.
Publicado: (2021)

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)

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature
por: Pan, Xiaoli, et al.
Publicado: (2022)

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

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
por: Choi, Rihwa, et al.
Publicado: (2017)

Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene
por: Khan, Hamza Hassan, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_0spt57ujevnl8s25bg9bul7pmh