Hiromi Nyuzuki

6PUBLICATIONS
13CO-AUTHORS
Nutrigenomics and personalised nutritionAnalytical spectrometryMedical infection agents (incl. prions)Cardiology (incl. cardiovascular diseases)Neonatology
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Publications (6)

|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 27, 2024
Hypocarnitinemia in twins after maternal pivalate-conjugated antibiotic therapy.

Takuya Fuse, Yuta Aizawa, Hiromi Nyuzuki

|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

3 joint publications

Takeshi Ikeuchi

2 joint publications

Keisuke Nagasaki

2 joint publications

Jun Tohyama

1 joint publications

Takuya Fuse