Cargando…

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population

Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotyp...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ersoy, Melike, Uyanik, Bulent, Gedikbasi, Asuman
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701369/ https://www.ncbi.nlm.nih.gov/pubmed/34946936 http://dx.doi.org/10.3390/genes12121987

Ejemplares similares

Twelve-year trends in the prevalence and risk factors of diabetes and prediabetes in Turkish adults
por: Satman, Ilhan, et al.
Publicado: (2013)

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)

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

Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients
por: Sperb-Ludwig, Fernanda, et al.
Publicado: (2019)

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

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

HLA alleles and lung cancer in a Turkish population
por: Ozbek, Nilgün, et al.
Publicado: (2004)

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)

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

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)

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

CT findings of glycogen storage disease I complicated with pancreatitis: A case report
por: Chen, Shuo, et al.
Publicado: (2023)

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome
por: Eghbali, Maryam, et al.
Publicado: (2021)

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

CT-based analysis of posterior tibial slope in a Turkish population sample: A retrospective observational study
por: Hassa, Ercan, et al.
Publicado: (2023)

A New Perspective on the Quality of Life of Children with Glycogen Storage Diseases
por: Sobhy, Gihan Ahmed, et al.
Publicado: (2022)

Accidental inhalation of mercury vapor in a child
por: Sevketoglu, Esra, et al.
Publicado: (2011)

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)

Spontaneous intra-cerebral hemorrhage: A retrospective study of risk factors and outcome in a Turkish population
por: Celikbilek, Asuman, et al.
Publicado: (2013)

Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children
por: Karaca, Sefayet, et al.
Publicado: (2016)

Serum prolidase activity in patients with cardiac syndrome X
por: Aciksari, Gonul, et al.
Publicado: (2020)

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)

Hepatic glycogen storage diseases are associated to microbial dysbiosis
por: Colonetti, Karina, et al.
Publicado: (2019)

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

Wernicke’s Encephalopathy: A Precipitation of Glycogen Storage Disease
por: Idris, Samah, et al.
Publicado: (2022)

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

Determination of a Cutoff for Noise Sensitivity: Psychometric Evaluation of the Turkish Noise Sensitivity Questionnaire (Tr-NoiSeQ)
por: Alnıaçık, Asuman, et al.
Publicado: (2022)

Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases
por: Pursell, Natalie, et al.
Publicado: (2018)

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)

Manipulating the Expression of Glycogen Phosphorylase in Synechococcus elongatus PCC 7942 to Mobilize Glycogen Storage for Sucrose Synthesis
por: Dan, Yu, et al.
Publicado: (2022)

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran
por: Papi, Atefe, et al.
Publicado: (2022)

Parents’ Attitudes toward Childhood Vaccines and COVID-19 Vaccines in a Turkish Pediatric Outpatient Population
por: Durmaz, Nihal, et al.
Publicado: (2022)

Evaluation of Nutritional Status in Turkish Adolescents as Related to Gender and Socioeconomic Status
por: Özgüven, Işıl, et al.
Publicado: (2010)

Turkish Neonatal Society guideline to the approach, follow-up, and treatment of neonatal jaundice
por: Çoban, Asuman, et al.
Publicado: (2018)

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

Neutrophil Gelatinase-Associated Lipocalin as an Early Sign of Diabetic Kidney Injury in Children
por: Yürük Yıldırım, Zeynep, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_lpqarlv4n9v0gsbjo1vvrkac7a