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Glycogen Storage Disease Type IV

Glycogen Storage Disease Type IV Deep Research Fallback

⚠️ Fallback MONDO:0009292

Glycogen Storage Disease Type IV Deep Research Fallback

Provider Attempts

  • just research-disorder falcon Glycogen_Storage_Disease_Type_IV was started from the isolated GSD IV worktree and remained silent for several minutes. The process was terminated with SIGTERM rather than waiting indefinitely.
  • just research-disorder openai Glycogen_Storage_Disease_Type_IV was started next and likewise remained silent for several minutes. The process was terminated with SIGTERM.

Evidence Scope Used

Because both provider runs failed to return usable output, curation used bounded direct evidence from:

  • ORPHA:367, regenerated from Orphadata, for disease definition, inheritance, prevalence, MONDO mapping, and structured HPO frequency rows.
  • PMID:23285490, GeneReviews, for the GSD IV subtype continuum, diagnostic testing, and management.
  • PMID:36796138, the 2023 clinical practice resource, for GBE1 pathogenic variants, deficient glycogen branching enzyme activity, polyglucosan accumulation, APBD, and management domains.
  • PMID:30228975, a non-progressive GSD IV case with functional GBE1 studies, for liver biopsy histopathology, erythrocyte GBE activity, and mutant protein activity.
  • PMID:33141444, a GBE1/APBD neuromuscular review, for adult polyglucosan body tissue involvement.

No unsupported therapeutic trial, investigational agent, or subtype-specific claim was added beyond the cached sources above.