Cargando…

Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study

Lipid storage myopathy due to flavin adenine dinucleotide synthetase 1 (FLAD1) deficiency is an autosomal recessive error of metabolism that causes variable mitochondrial dysfunction. CASE PRESENTATION: At the age of 3, the patient was found to have movement problems, such as difficulty rising from...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hosseini, Seyed Ahmad, Shojaie, Layla, Ghelichi-Ghojogh, Mousa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205324/ https://www.ncbi.nlm.nih.gov/pubmed/37229023 http://dx.doi.org/10.1097/MS9.0000000000000561

Ejemplares similares

Mutation in PYCR2 gene and hypomyelinating leukodystrophy in children: a case report study
por: Hosseini, Seyed Ahmad, et al.
Publicado: (2023)

Coronavirus pandemic and pregnant mothers
por: Khezri, Rozhan, et al.
Publicado: (2022)

Mutation Spectrum of Primary Lipid Storage Myopathies
por: Vengalil, Seena, et al.
Publicado: (2022)

Leukoencephalopathy with vanishing white matter disease: a case report study
por: Kami, Atefe, et al.
Publicado: (2023)

Survival Rate of Liver Transplantation in Asia: A Systematic Review and Meta-Analysis
por: Ghelichi-Ghojogh, Mousa, et al.
Publicado: (2022)

FLAD1 is up-regulated in Gastric Cancer and is a potential prediction of prognosis
por: Hu, Pan, et al.
Publicado: (2020)

Lipolysis and lipophagy in lipid storage myopathies
por: Angelini, Corrado, et al.
Publicado: (2016)

Editorial Commentary: Lipid Storage Myopathies
por: Khadilkar, Satish, et al.
Publicado: (2022)

Two novel ETFDH mutations in a patient with lipid storage myopathy
por: Xu, Hong-Liang, et al.
Publicado: (2019)

Chronic kidney disease and its health-related factors: a case-control study
por: Ghelichi-Ghojogh, Mousa, et al.
Publicado: (2022)

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening
por: Muru, Kai, et al.
Publicado: (2019)

OGT and FLAD1 Genes Had Significant Prognostic Roles in Progressive Pathogenesis in Prostate Cancer
por: Kim, Sung Han, et al.
Publicado: (2023)

Survival Rate of Colorectal Cancer in Eastern Mediterranean Region Countries: A Systematic Review and Meta-Analysis
por: Nikbakht, Hossein-Ali, et al.
Publicado: (2020)

Susceptibility to COVID-19 in Pregnant and Breastfeeding Women
por: ALLAH KALTEH, Ehsan, et al.
Publicado: (2020)

Self-management of patients with chronic diseases during COVID19: a narrative review
por: GHOTBI, TAHEREH, et al.
Publicado: (2022)

Is it possible to eradicate the covid-19 or not?
por: Khezri, Rozhan, et al.
Publicado: (2022)

Risk factors for COVID-19 severity and mortality among inpatients in Southern Iran
por: REZAEI, FATEMEH, et al.
Publicado: (2022)

The prevalence of electronic cigarettes vaping globally: a systematic review and meta-analysis
por: Tehrani, Hadi, et al.
Publicado: (2022)

Psychometric properties of multidimensional health locus of control scale, form C among Iranian type 2 diabetes
por: Jafari, Alireza, et al.
Publicado: (2023)

Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis
por: Yavuz, Arda, et al.
Publicado: (2020)

Short-term exposure to some heavy metals carried with PM(10) and cardiovascular system biomarkers during dust storm
por: Badeenezhad, Ahmad, et al.
Publicado: (2023)

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)

A 7-year old boy with recurrent attacks of Streptococcus pneumoniae meningitis
por: Al Shamsan, Layla, et al.
Publicado: (2006)

Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study
por: Han, Jingzhe, et al.
Publicado: (2019)

Epidemiology of Animal Bites and Factors Associated With Delays in Initiating Post-exposure Prophylaxis for Rabies Prevention Among Animal Bite Cases: A Population-based Study
por: Esmaeilzadeh, Firooz, et al.
Publicado: (2017)

Epidemiological characteristics and outcomes of COVID-19 in asymptomatic versus symptomatic patients
por: PIRAEE, ELAHE, et al.
Publicado: (2022)

Psychometric properties of Persian version of diabetes health literacy scale (DHLS) in patients with type 2 diabetes
por: Moshki, Mahdi, et al.
Publicado: (2022)

Correction: Psychometric properties of Persian version of diabetes health literacy scale (DHLS) in patients with type 2 diabetes
por: Moshki, Mahdi, et al.
Publicado: (2022)

Neutral lipid storage disease with myopathy: A 10-year follow-up case report
por: Missaglia, Sara, et al.
Publicado: (2022)

Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
por: Zheng, Shouyan, et al.
Publicado: (2018)

Significant Diagnostic and Prognostic Value of FLAD1 and Related MicroRNAs in Breast Cancer after a Pan-Cancer Analysis
por: Mei, Mei, et al.
Publicado: (2021)

Persistent hypoglycemia associated with lipid storage myopathy in a paint foal
por: Pinn, Toby L., et al.
Publicado: (2018)

MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy
por: Pegoraro, Valentina, et al.
Publicado: (2019)

The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China
por: HAN, Jingzhe, et al.
Publicado: (2022)

Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy
por: Shi, Jiejing, et al.
Publicado: (2021)

Adrenal hematoma following falling in a 5-year-old boy
por: Guitynavard, Fateme, et al.
Publicado: (2020)

Predicting the 28-Day Mortality of Non-Trauma Patients using REMS and RAPS; a Prognostic Accuracy Study
por: Garkaz, Omid, et al.
Publicado: (2022)

Prevalence of Syphilis Infections among the Iranian Population: A Systematic Review and Meta-Analysis
por: Esmaeilzadeh, Firooz, et al.
Publicado: (2022)

Mimicking human riboflavin responsive neuromuscular disorders by silencing flad‐1 gene in C. elegans : Alteration of vitamin transport and cholinergic transmission
por: Leone, Piero, et al.
Publicado: (2021)

Enthesitis in a 16-Year-Old Boy with M694V Mutation
por: Nienhuis, Syert Luidolf, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_i33d7396hfjqh88fp281pth6b4