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Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report
Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration. Herein, we report a case of a one‐and‐...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830013/ https://www.ncbi.nlm.nih.gov/pubmed/36636595 http://dx.doi.org/10.1002/jmd2.12275 |