| FAM111A mutations result in hypoparathyroidism and impaired skeletal development S Unger, MW Górna, A Le Béchec, S Do Vale-Pereira, MF Bedeschi, ... The American Journal of Human Genetics 92 (6), 990-995, 2013 | 127 | 2013 |
| Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ TY Hiyama, AN Utsunomiya, M Matsumoto, A Fujikawa, CH Lin, K Hara, ... Brain Pathology 27 (3), 323-331, 2017 | 42 | 2017 |
| Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene Y Kawashima, R Nishimura, A Utsunomiya, R Kagawa, H Funata, ... Endocrine journal 60 (1), 107-112, 2013 | 30 | 2013 |
| Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report S Sakata, S Okada, K Aoyama, K Hara, C Tani, R Kagawa, ... Frontiers in Genetics 8, 210, 2017 | 29 | 2017 |
| Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases A Nakamura-Utsunomiya, S Okada, K Hara, S Miyagawa, K Takeda, ... Clinical Pediatric Endocrinology 19 (1), 7-13, 2010 | 29 | 2010 |
| Characteristic clinical features of adipsic hypernatremia patients with subfornical organ-targeting antibody A Nakamura-Utsunomiya, TY Hiyama, S Okada, M Noda, M Kobayashi clinical pediatric endocrinology 26 (4), 197-205, 2017 | 18 | 2017 |
| Neonatal pertussis presenting as acute bronchiolitis: direct detection of the Bordetella pertussis genome using loop-mediated isothermal amplification A Nakamura, T Sakano, T Nakayama, H Shimoda, Y Okada, R Hanayama, ... European journal of pediatrics 168, 347-349, 2009 | 17 | 2009 |
| Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision) T Ishii, K Kashimada, N Amano, K Takasawa, A Nakamura-Utsunomiya, ... clinical pediatric endocrinology 31 (3), 116-143, 2022 | 15 | 2022 |
| Transient pseudothrombocytopenia in a neonate: transmission of a maternal EDTA-dependent anticoagulant N Ohno, M Kobayashi, S Hayakawa, A Utsunomiya, S Karakawa Platelets 23 (5), 399-400, 2012 | 15 | 2012 |
| Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2 S Morikawa, N Komatsu, S Sakata, A Nakamura-Utsunomiya, S Okada, ... Clinical Pediatric Endocrinology 24 (3), 135-138, 2015 | 10 | 2015 |
| Bone biomarkers in mucopolysaccharidoses A Nakamura-Utsunomiya International Journal of Molecular Sciences 22 (23), 12651, 2021 | 8 | 2021 |
| A case report of a Japanese boy with Morquio A syndrome: effects of enzyme replacement therapy initiated at the age of 24 months A Nakamura-Utsunomiya, T Nakamae, R Kagawa, S Karakawa, S Sakata, ... International Journal of Molecular Sciences 21 (3), 989, 2020 | 8 | 2020 |
| Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils A Nakamura-Utsunomiya, M Tsumura, S Okada, H Kawaguchi, ... Plos one 15 (4), e0230665, 2020 | 7 | 2020 |
| Identification of clinical factors related to antibody‐mediated immune response to the subfornical organ A Nakamura‐Utsunomiya, S Goda, S Hayakawa, S Sonoko, EJ Hoorn, ... Clinical Endocrinology 97 (1), 72-80, 2022 | 6 | 2022 |
| Autoimmunity related to adipic hypernatremia and ROHHAD syndrome A Nakamura-Utsunomiya IJMS, 2022 | 5 | 2022 |
| Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan S Yatsuga, N Amano, A Nakamura-Utsunomiya, H Kobayashi, ... Endocrine journal 67 (8), 853-857, 2020 | 5 | 2020 |
| Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant G Tajima, R Kagawa, F Sakura, A Nakamura-Utsunomiya, K Hara, ... International Journal of Neonatal Screening 7 (3), 35, 2021 | 4 | 2021 |
| Analysis of water and electrolyte imbalance in a patient with adipsic hypernatremia associated with subfornical organ-targeting antibody Y Shirai, K Miura, A Nakamura-Utsunomiya, K Ishizuka, M Hattori, ... CEN Case Reports 11 (1), 110-115, 2022 | 3 | 2022 |
| Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists K Takasawa, A Nakamura-Utsunomiya, N Amano, T Ishii, T Hasegawa, ... Endocrine journal 69 (1), 75-83, 2022 | 2 | 2022 |
| 重水標識脂肪酸負荷後の末梢リンパ球中アシルカルニチン分析による脂肪酸酸化異常症診断法の検討 重松陽介 日本先天代謝異常学会雑誌 24, 92, 2008 | 2 | 2008 |
