Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study
Japanese patients with renal lesions as a primary TSC-related manifestation had the longest delay for a definitive diagnosis of TSC, followed by those with epilepsy, brain tumor/intraventricular tumor, and intellectual disabilities. The TSC clinic played an important role in the early diagnosis of TSC.
Authors
- Ikuo Fujimori (ORCID: https://orcid.org/0000-0002-5521-831X)
- Takumi Tajima (ORCID: https://orcid.org/0009-0007-9633-5831)
- Tohru Okanishi (ORCID: https://orcid.org/0000-0003-3295-2236)
- Mari Wataya‐Kaneda (ORCID: https://orcid.org/0000-0001-7280-9560)
- Takashi Hatano (ORCID: https://orcid.org/0000-0001-8163-0087)
- Kuniaki Seyama
- Mariko Yamada
Institutions
- Juntendo University (JP)
- Novartis (Japan) (JP)
- Seirei Social Welfare Community (JP)
- Tottori University (JP)
- The University of Osaka (JP)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1186/s13023-024-03460-y
- Citations
- 1
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33
Funders
- Novartis Pharma