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Therefore, metabolic tests based on biomarkers that identify autism-associated metabolic subpopulations will require sensitivities that detect low prevalence metabolic phenotypes, have high specificities to distinguish the phenotype and, ideally, provide new or support existing biological insights

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Gastroenterology 162 , 548561.e4 (2022)

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reported a case of an 11-year-old female patient diagnosed with L2HGA in 2013, who presented primarily with generalized status epilepticus as the main clinical manifestation [50]