TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference21 articles.
1. Mitochondrial dysfunction associated with TANGO2 deficiency;Heiman;Sci Rep,2022
2. Clinical phenotype associated with TANGO2 gene mutation;Hoebeke;Arch Pediatr,2021
3. Symptom prevalence and genotype-phenotype correlations in patients with TANGO2-related metabolic encephalopathy and arrhythmias (TRMEA);Powell;Pediatr Neurol,2021
4. TANGO-2 with severe and prolonged rhabdomyolysis in a 2-year old Male with human metapneumovirus infection;Kheireldin;Translation,2020
5. Clinical presentation and proteomic signature of patients with TANGO2 mutations;Mingirulli;J Inherit Metab Dis,2020
Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome;American Journal of Medical Genetics Part A;2024-06-03
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