Hiromi Nyuzuki

7PUBLICATIONS
23CO-AUTHORS
NeurogeneticsNutrigenomics and personalised nutritionAnalytical spectrometryMedical infection agents (incl. prions)Cardiology (incl. cardiovascular diseases)
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Publications (7)

|Aug 27, 2026
Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

|Jun 17, 2026
Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

|Jun 12, 2026
Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variant.

|Oct 23, 2025
Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly.

Mizuki Harada, Takanori Onuki, Hiromi Nyuzuki

|Dec 03, 2024
Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Moemi Hojo, Noriko Soma, Kei Yamada

|Feb 21, 2024
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.

Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki

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Frequent Collaborators

4 joint publications

Takeshi Ikeuchi

3 joint publications

Jun Tohyama

2 joint publications

Keisuke Nagasaki

1 joint publications

Takuya Fuse