Hiromi Nyuzuki

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita et al. · PLoS Genetics · 2016 · 305 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Yoichi Wada, Atsuo Kikuchi, Natsuko Arai‐Ichinoi et al. · Genetics in Medicine · 2018 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Nonsense mutations in <i>FZD2</i> cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes

Keisuke Nagasaki, Gen Nishimura, Toru Kikuchi et al. · American Journal of Medical Genetics Part A · 2018 · 26 citations

Life Sciences, Genetics, Molecular Genetics +17

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening

Jun Kido, Johannes Häberle, Toju Tanaka et al. · Journal of Inherited Metabolic Disease · 2023 · 19 citations · Full text

Medicine, Pediatrics, Clinical Biochemistry +9

Degeneration of dopaminergic neurons and impaired intracellular trafficking in Atp13a2 deficient zebrafish

Hiromi Nyuzuki, Shinji Ito, Keisuke Nagasaki et al. · IBRO Reports · 2020 · 16 citations · Full text

Life Sciences, Genetics, Neuroscience +17