Cargando…

NAXE gene mutation-related progressive encephalopathy: A case report and literature review

RATIONALE: Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is an infantile, lethal neurometabolic disorder caused by a NAD(P)HX epimerase (NAXE) gene mutation. It is characterized by a fluctuating disease course with repeated episodes of improvement and regression. In this r...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chiu, Li-Wei, Lin, Sheng-Shing, Chen, Chieh-Ho, Lin, Chien-Heng, Lee, Ni-Chung, Hong, Syuan-Yu, Chou, I-Ching, Lin, Chien-Lin, Yang, Pei-Yu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	6200
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542128/ https://www.ncbi.nlm.nih.gov/pubmed/34678889 http://dx.doi.org/10.1097/MD.0000000000027548

Ejemplares similares

Comparison of severe pediatric complicated influenza patients with and without neurological involvement
por: Lin, Chien-Heng, et al.
Publicado: (2021)

Genetic factors and the risk of drug-resistant epilepsy in young children with epilepsy and neurodevelopment disability: A prospective study and updated meta-analysis
por: Lin, Chien-Heng, et al.
Publicado: (2021)

Association Between Neonatal Urinary Tract Infection and Risk of Childhood Allergic Rhinitis
por: Lin, Chien-Heng, et al.
Publicado: (2015)

Long-term risk of pneumothorax in asthmatic children: A 12-year population-based cohort study
por: Lin, Chien-Heng, et al.
Publicado: (2020)

Application of Kinesio Taping method for newborn swallowing difficultly: A case report and literature review
por: Lin, Chien-Lin, et al.
Publicado: (2016)

Clinical seizures and unfavorable brain MRI patterns in neonates with hypoxic ischemic encephalopathy
por: Lin, Yen-Kuang, et al.
Publicado: (2021)

Inflammatory myofibroblastic tumors of the pancreas in children: A case report and literature review
por: Liu, Hsien-Kuan, et al.
Publicado: (2017)

Lamotrigine Induced DRESS Syndrome in a Child: A Case Report and Literature Review
por: Lin, Chien-Heng, et al.
Publicado: (2021)

Epidemiology and clinical analysis of critical patients with child maltreatment admitted to the intensive care units
por: Lee, En-Pei, et al.
Publicado: (2017)

Child protection medical service demonstration centers in approaching child abuse and neglect in Taiwan
por: Chang, Yu-Ching, et al.
Publicado: (2016)

Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics
por: Chang, Yu-Tzu, et al.
Publicado: (2023)

Association of croup with asthma in children: A cohort study
por: Lin, Sheng-Chieh, et al.
Publicado: (2017)

Increased risk of herpes zoster in children with cancer: A nationwide population-based cohort study
por: Lin, Hsiao-Chuan, et al.
Publicado: (2016)

Hemodynamic Effects of Nasal Intermittent Positive Pressure Ventilation in Preterm Infants
por: Chang, Hung-Yang, et al.
Publicado: (2016)

The impact of rotavirus vaccination in the prevalence of gastroenteritis and comorbidities among children after suboptimal rotavirus vaccines implementation in Taiwan: A population-based study
por: Lu, Meng-Che, et al.
Publicado: (2021)

Early Immunoglobulin Therapy and Outcomes in Kawasaki Disease: A Nationwide Cohort Study
por: Ho, Chi-Lin, et al.
Publicado: (2015)

Adjuvant probiotic Bifidobacterium animalis subsp. lactis CP-9 improve phototherapeutic treatment outcomes in neonatal jaundice among full-term newborns: A randomized double-blind clinical study
por: Tsai, Ming-Luen, et al.
Publicado: (2022)

Assessing ChatGPT’s capacity for clinical decision support in pediatrics: A comparative study with pediatricians using KIDMAP of Rasch analysis
por: Kao, Hsu-Ju, et al.
Publicado: (2023)

Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review
por: Wang, Jing, et al.
Publicado: (2022)

Longitudinal follow-up of muscle echotexture in infants with congenital muscular torticollis
por: Hu, Ching-Fang, et al.
Publicado: (2017)

“Nick Nax”
Publicado: (1859)

Detecting dengue fever in children using online Rasch analysis to develop algorithms for parents: An APP development and usability study
por: Hu, Ting-Yun, et al.
Publicado: (2023)

The effect of insoles on symptomatic flatfoot in preschool-aged children: A prospective 1-year follow-up study
por: Chen, Kun-Chung, et al.
Publicado: (2019)

Early steroid pulse therapy for children with suspected acute encephalopathy: An observational study
por: Ishida, Yusuke, et al.
Publicado: (2021)

The first case report of Enterococcus gallinarum meningitis in neonate: A literature review
por: Li, Xiaoquan, et al.
Publicado: (2018)

Renal abscess complicating acute pyelonephritis in children: Two cases report and literature review
por: Zhan, Zhuqin, et al.
Publicado: (2023)

A case report of reversible posterior encephalopathy syndrome with intracranial hemorrhage in a child
por: Chen, Xiaoqian, et al.
Publicado: (2021)

Allergic rhinitis and dental-supporting tissue diseases in children
por: Lai, Wan-Yu, et al.
Publicado: (2021)

Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report
por: Feng, Jinhua, et al.
Publicado: (2023)

A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report
por: Qian, Meijia, et al.
Publicado: (2022)

De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report
por: Ding, Le, et al.
Publicado: (2023)

Cerebral salt-wasting syndrome in a child with Wernicke encephalopathy treated with fludrocortisone therapy: A case report
por: Han, Min Jeong, et al.
Publicado: (2016)

A clinical prediction rule for acute bilirubin encephalopathy in neonates with extreme hyperbilirubinemia: A retrospective cohort study
por: Zhang, Fanhui, et al.
Publicado: (2020)

Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review
por: Abidi, Kamal T., et al.
Publicado: (2020)

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China
por: Xie, Hongyan, et al.
Publicado: (2023)

Impact of planned versus emergency cesarean delivery on neonatal outcomes in pregnancies complicated by abnormal placentation: A systematic review and meta-analysis
por: Huang, Yi-Chien, et al.
Publicado: (2023)

Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review
por: Lihua, Jiang, et al.
Publicado: (2017)

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review
por: Luo, Fangmei, et al.
Publicado: (2023)

Clinical and Epidemiologic Features of Severe Viral Gastroenteritis in Children: A 3-Year Surveillance, Multicentered Study in Taiwan With Partial Rotavirus Immunization
por: Chen, Chih-Jung, et al.
Publicado: (2015)

Development of an evaluation indicator system for the rational use of proton pump inhibitors in pediatric intensive care units: An application of Delphi method
por: Ni, Xiaofeng, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_lro9cgu6s3erko195ev53rhluq