| Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency T Fukao, H Sasai, Y Aoyama, H Otsuka, Y Ago, H Matsumoto, ... Journal of human genetics 64 (2), 99-111, 2019 | 31 | 2019 |
| Deficiency of 3‐hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting H Otsuka, T Kimura, Y Ago, M Nakama, Y Aoyama, E Abdelkreem, ... Journal of Inherited Metabolic Disease 43 (5), 960-968, 2020 | 13 | 2020 |
| Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons M Nakama, H Otsuka, Y Ago, H Sasai, E Abdelkreem, Y Aoyama, T Fukao Gene 664, 84-89, 2018 | 13 | 2018 |
| ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice K Aoto, M Kato, T Akita, M Nakashima, H Mutoh, N Akasaka, J Tohyama, ... Nature communications 12 (1), 1-17, 2021 | 11 | 2021 |
| A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia Y Ago, H Sugie, T Fukuda, H Otsuka, H Sasai, M Nakama, E Abdelkreem, ... JIMD reports 48 (1), 15-18, 2019 | 6 | 2019 |
| Beta‐ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency M Alijanpour, H Sasai, E Abdelkreem, Y Ago, S Soleimani, L Moslemi, ... JIMD reports 46 (1), 23-27, 2019 | 5 | 2019 |
| Japanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations Y Ago, H Otsuka, H Sasai, E Abdelkreem, M Nakama, Y Aoyama, ... Experimental and therapeutic medicine 20 (5), 1-1, 2020 | 4 | 2020 |
| Evading the AAV immune response in mucopolysaccharidoses M Piechnik, K Sawamoto, H Ohnishi, N Kawamoto, Y Ago, S Tomatsu International Journal of Molecular Sciences 21 (10), 3433, 2020 | 2 | 2020 |
| Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy H Chen, S Khan, B Celik, Y Suzuki, Y Ago, S Tomatsu Molecular genetics & genomic medicine 9 (11), e1806, 2021 | 1 | 2021 |
| Glycosaminoglycans as biomarkers for mucopolysaccharidoses and other disorders PC Amendum, S Khan, S Yamaguchi, H Kobayashi, Y Ago, Y Suzuki, ... Diagnostics 11 (9), 1563, 2021 | 1 | 2021 |
| Diagnosis of mucopolysaccharidoses and mucolipidosis by assaying multiplex enzymes and glycosaminoglycans N Arunkumar, DC Vu, S Khan, H Kobayashi, TB Ngoc Can, T Oguni, ... Diagnostics 11 (8), 1347, 2021 | 1 | 2021 |
| In vitro functional analysis of four variants of human asparagine synthetase H Matsumoto, N Kawashima, T Yamamoto, M Nakama, H Otsuka, Y Ago, ... Journal of Inherited Metabolic Disease 44 (5), 1226-1234, 2021 | | 2021 |
| Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a H Iijima, Y Ago, R Fujiki, T Takayanagi, M Kubota Molecular Genetics and Metabolism Reports 26, 100702, 2021 | | 2021 |
| Japanese patients with mitochondrial 3ShydroxyS3SmethylglutarylSCoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations Y AGO, H OTSUKA, H SASAI, E ABDELKREEM, M NAKAMA, Y AOYAMA, ... synthesis 3, 4, 0 | | |
