Takanobu Otomo

7PUBLICATIONS
11CO-AUTHORS
Pacific Peoples youth and familyMedical biochemistry - lipidsSolar system planetary science (excl. planetary geology)Medical infection agents (incl. prions)Medical mycology
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Publications (7)

|Jul 04, 2026
Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group.

|Jul 12, 2025
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.

Seigo Terawaki, Hiroki Nakanishi, Toko Shibuya

|Oct 16, 2023
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.

Takahito Moriwaki, Mitsuo Masuno, Miho Nagata

|Aug 26, 2023
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).

Viktoriia Sofronova, Lyutsiya Gotovtseva, Anastasia Danilova

|Mar 29, 2023
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.

Viktoriia Sofronova, Elizaveta Gurinova, Diana Petukhova

|Jul 25, 2022
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.

Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno

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Frequent Collaborators

5 joint publications

Seigo Terawaki

3 joint publications

Viktoriia Sofronova

2 joint publications

Filipp Vasilev

2 joint publications

Yasuki Ishihara