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  "docSlug": "d469b8223f6f86cb5d6a1f0a99cbce5c",
  "documentTitle": "Aeglea BioTherapeutics | Investor Day Presentation Deck | 28 slides",
  "authorId": "aeglea-biotherapeutics",
  "authorName": "Aeglea BioTherapeutics",
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  "sourceTypeSlug": "investor_relations",
  "sourceTypeLabel": "Investor relations",
  "presentationDate": "2022-10-01 00:00:00",
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  "pageNumber": 13,
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  "slideType": "problem_statement",
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  "density": "dense",
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  "notes": "The slide highlights the clinical consequences of missing HCU in newborn screening (NBS).",
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  "slideHref": "/slides/019de073-9e32-71bd-acba-301a2d9cbf00/13",
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      "kind": "disclaimer",
      "text": "HCU, homocystinuria; NBS, newborn screening.",
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      "text": "Complications: Pulmonary embolus (age 23 y). HCU Diagnosis: Suggested during hospitalization, Plasma Hcy: 230 µmol/L. HCU Management & Outcome: Dietary restriction + betaine, Hcy: 120–170 µmol/L, At risk of new pulmonary embolism or stroke",
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      "kind": "list",
      "text": "Clinical features: Lens dislocation with myopia (age 8 y), Tall and thin, long arms and legs, Developmental delay, intellectual disability. Initial diagnosis: Marfan syndrome",
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      "text": "Case 1: male patient not ascertained through NBS",
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      "kind": "title",
      "text": "Classical HCU: Diagnostic Delay",
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  "loops": [
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      "name": "Cost Of Inaction",
      "slug": "27-cost-of-inaction",
      "bestFor": "Urgent budget requests, compliance, risk mitigation",
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