Kuniaki Seyama

Tokyo, Japan

Last Updated: 09/26/2026

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Found 107 publications

Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations - breaking the 'rare disease' status?

Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations - breaking the 'rare disease' status?

Journal: NPJ genomic medicine

Published: December 03, 2025

High prevalence of TSC2 mutations in lung tissue samples from patients with sporadic lymphangioleiomyomatosis.

High prevalence of TSC2 mutations in lung tissue samples from patients with sporadic lymphangioleiomyomatosis.

Journal: The European respiratory journal

Published: October 29, 2025

A collaborative study to disseminate the clinical practice of diagnosing and managing Birt-Hogg-Dubé syndrome in Japan.

A collaborative study to disseminate the clinical practice of diagnosing and managing Birt-Hogg-Dubé syndrome in Japan.

Journal: Respiratory investigation

Published: March 10, 2025

A 53-year-old Man with Idiopathic Bilateral Chylothorax Refractory to Lymphaticovenular Anastomosis.

A 53-year-old Man with Idiopathic Bilateral Chylothorax Refractory to Lymphaticovenular Anastomosis.

Journal: Internal medicine (Tokyo, Japan)

Published: June 12, 2024

Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study.

Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study.

Journal: Orphanet journal of rare diseases

Published: May 20, 2024

Stepwise Incremental Dose Schedule of Sirolimus Is Successfully Tolerated by a Patient With Lymphangioleiomyomatosis Who Was Initially Allergic to mTOR Inhibitors.

Stepwise Incremental Dose Schedule of Sirolimus Is Successfully Tolerated by a Patient With Lymphangioleiomyomatosis Who Was Initially Allergic to mTOR Inhibitors.

Journal: Cureus

Published: April 22, 2024

Pulmonary Erdheim-Chester Disease With BRAF-AGAP3 Fusion: Late-Onset Osteolytic Femoral Lesions Despite Long-Term Pulmonary Stabilization With Corticosteroid.

Pulmonary Erdheim-Chester Disease With BRAF-AGAP3 Fusion: Late-Onset Osteolytic Femoral Lesions Despite Long-Term Pulmonary Stabilization With Corticosteroid.

Journal: Cureus

Published: March 06, 2024

Allelic frequency of pathogenic α1-antitrypsin variants in the Japanese population: Results from a survey of open Japanese genetic variation databases.

Allelic frequency of pathogenic α1-antitrypsin variants in the Japanese population: Results from a survey of open Japanese genetic variation databases.

Journal: Respiratory investigation

Published: February 28, 2024

Lymphangioleiomyomatosis as a potent lung cancer risk factor: Insights from a Japanese large cohort study.

Lymphangioleiomyomatosis as a potent lung cancer risk factor: Insights from a Japanese large cohort study.

Journal: Respirology (Carlton, Vic.)

Published: January 22, 2024

Extrapleural air secondary to idiopathic pulmonary fibrosis-related pneumomediastinum.

Extrapleural air secondary to idiopathic pulmonary fibrosis-related pneumomediastinum.

Journal: Respirology case reports

Published: November 07, 2023

An elderly woman with Birt-Hogg-Dubé syndrome having multiple pulmonary cysts mimicking lymphangioleiomyomatosis.

An elderly woman with Birt-Hogg-Dubé syndrome having multiple pulmonary cysts mimicking lymphangioleiomyomatosis.

Journal: Respiratory investigation

Published: September 29, 2023

Clinicopathological Impacts of Expression of Neuronal Markers in Lymphangioleiomyomatosis.

Clinicopathological Impacts of Expression of Neuronal Markers in Lymphangioleiomyomatosis.

Journal: The American journal of surgical pathology

Published: August 21, 2023

Showing 1-12 of 107

Last Updated: 09/26/2026