scispace - formally typeset
T

Toju Tanaka

Publications -  7
Citations -  310

Toju Tanaka is an academic researcher. The author has contributed to research in topics: Hunter syndrome & Enzyme replacement therapy. The author has an hindex of 4, co-authored 5 publications receiving 270 citations.

Papers
More filters
Journal ArticleDOI

Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).

TL;DR: Idursulfase treatment appears to be safe and effective in adult Japanese patients with attenuated MPS II and advanced disease, comparable to those of prior studies that enrolled predominantly pediatric, Caucasian, and less ill patients.
Journal ArticleDOI

Newborn screening for Pompe disease in Japan

TL;DR: The low false-positive rate suggests that NBS for Pompe disease is feasible in Japan, and the comparatively high frequency of pseudodeficiency allele makes NBSfor Pompe disease complicated in Taiwan.
Journal ArticleDOI

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

TL;DR: It is suggested that early intervention including a low carbohydrate diet and MCT supplementation can be associated with improved clinical course and long‐term outcome in Japanese patients with citrin deficiency.
Journal ArticleDOI

Monozygotic twins of Smith-Magenis syndrome.

TL;DR: The first reported case of monozygotic twins with Smith–Magenis syndrome, born to a 26-year-old Japanese G2P1-3 woman with no previous medical problems, are document.