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Yasuhiko Ago
Yasuhiko Ago
Department of pediatrics, Gifu University
Verified email at bma.biglobe.ne.jp
Title
Cited by
Cited by
Year
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
312019
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
132020
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
132018
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
112021
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
62019
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
52019
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
42020
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
22020
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
12021
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
12021
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
12021
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
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