Hideo Sasai

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

Deficiency of 3‐hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting

Hiroki Otsuka, Takeshi Kimura, Yasuhiko Ago et al. · Journal of Inherited Metabolic Disease · 2020 · 47 citations · Full text

Life Sciences, Biochemistry, Nutritional Sciences +16

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

Jun Kido, Johannes Häberle, Keishin Sugawara et al. · Journal of Inherited Metabolic Disease · 2022 · 34 citations · Full text

Medicine, Internal Medicine, Pathobiology +2

Characterization and outcome of 41 patients with beta‐ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam

Khanh Ngoc Nguyen, Elsayed Abdelkreem, Roberto Colombo et al. · Journal of Inherited Metabolic Disease · 2017 · 30 citations

Medicine, Endocrinology, Internal Medicine +3

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Go Tajima, Keiichi Hara, Miyuki Tsumura et al. · Molecular Genetics and Metabolism · 2017 · 30 citations

Medicine, Biochemistry, Pediatrics +15