3-methylglutaconic aciduria type i due to auh defect: the case report of a diagnostic odyssey and a review of the literature

HIGHLIGHTS

• who: Francesca Nardecchia et al. from the Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy have published the paper: 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature, in the Journal: (JOURNAL)
• what: The authors report the case of 31-month-old female child referred to the center after the detection of increased 3-hydroxyisovalerylcarnitine levels at newborn screening which were associated with increased urinary excretion of acid 3-hydroxyisovaleric acid and 3-methylglutaric acid. next-generation sequencing (NGS) panel . . .
  

   

  

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