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  "documentTitle": "Aeglea BioTherapeutics | Results Presentation Deck | 13 slides",
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  "authorName": "Aeglea BioTherapeutics",
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  "presentationDate": "2020-05-01 00:00:00",
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  "notes": "Includes a placeholder for a patient video and a callout regarding misdiagnosis.",
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      "text": "May be initially misdiagnosed as Cerebral Palsy or Hereditary Spastic Paraplegia",
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      "text": "Suspected cases can be diagnosed reliably. Plasma Arginine >300µM. Red Blood Cell Arginase, Genetic testing.",
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      "text": "Prominent and progressive neurological manifestations. Impaired mobility due to characteristic spastic diplegia. Seizures are a common feature.",
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      "text": "Additional abnormalities due to impairment urea cycle. Hyperammonemia but less prominent than other urea cycle disorders. Protein aversion, food refusal and self-restriction of protein.",
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      "text": "Autosomal recessive disorder of arginine metabolism due to ARG1 enzyme deficiency. Recent genetic prevalence data suggests > 2500 patients worldwide (>700 in Europe, >250 in US).",
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      "text": "Typically presents at ~2-4 years of age, can be later. Developmental delay with increasing intellectual disability. Failure to thrive and short stature.",
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      "kind": "source-note",
      "text": "1. Aeglea Data on File 2. Huemer M, et al. J Inherit Metab Dis. 2016;39:331–340 3.Burrage LC, et al. Hum Mol Genet. 2015;24:6417–6427 4. Carvalho DR, et al. Pediatr Neurol. 2012;46:369–374 5.Haberle J et al J Inherit Metab Dis, 2019, 6.Diez-Fernandez C, et al. Hum Mutat. 2018;39:1029–1050, 7.Carvalho DR et al. Gene 2012; 509(1): 124-130.",
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      "kind": "title",
      "text": "Arginase 1 Deficiency (ARG1-D)",
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