研究者総覧 - 糸永　知代

イトナガ　トモヨ
糸永　知代

所属大分大学医学部臨床医学・小児科学

職種助教

論文
論文	Testosterone treatment for micropenis in partial androgen insensitivity syndrome JCEM Case Reports 2026/04/29
論文	Clinical practice guidelines for the management of differences of sex development in Japan Clinical Pediatric Endocrinology 35 (1),1-49頁 2026/01
論文	Clinical practice guidelines for the management of differences of sex development in Japan Endocrine Journal 2026
論文	A 15-Year-Old Boy in Long-Term Remission of Epileptic Seizures With Infantile-Onset Attenuated Nonketotic Hyperglycinemia Cureus 17 (12),e98474 2025/12/04
論文	Bone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower-Dose Estradiol Therapy for Healthy Bone Density and Quality. American journal of medical genetics. Part C, Seminars in medical genetics 2025/10/21
論文	Postoperative malignant hyperthermia in a one-year-old girl with down syndrome: a case report Journal of Anesthesia 2025/09/15
論文	A boy diagnosed with infantile-onset ornithine transcarbamylase deficiency presented with an acute onset hemiconvulsion-hemiplegia-epilepsy syndrome 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Atypical nonketotic hyperglycinemia with long-term epileptic seizure remission: A case with a novel AMT gene variant 15th International Congress of Inborn Errors of Metabolism 2025/09
論文	Sarcopenia in children with acute leukemia worsened after induction therapy Endocrine Journal 2025/09
論文	大分県における小児期に診断されたターナー症候群の診療状況調査大分県医学会雑誌 33,43-49頁 2025/03
論文	節外性 NK/T 細胞リンパ腫，鼻型を併発した慢性活動性 EB ウイルス病 The Nishinihon Journal of Dermatology 86 (6),555-557頁 2024/12/01
論文	Coagulopathy by vitamin K deficiency: Clinical pitfall in a case with cerebral palsy under long-term enteral nutrition Brain and Development Case Reports 2024/12
論文	A pathogenic variant Gly148Arg of ACTA2 gene causes left ventricular myocardial compaction: cardiac manifestations in a zebrafish model. European Societyof Human Genetics Conference (ESHG 2024) 2024/06
論文	Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood European Journal of Medical Genetics 2024/06
論文	Factors associated with low bone mineral density in Turner syndrome: a multicenter prospective observational study Endocrine Journal 71 (6),561-569頁 2024/06
論文	将来の小児科医への提言2024 日本小児科学会雑誌 128 (5),758-762頁 2024/05
論文	Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model Journal of Human Genetics 2024/04
論文	Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening Molecular Genetics and Metabolism Reports 38,101024-101024頁 2024/03
論文	Infantile Hypothalamic Hamartoma: A Rare Presentation of Isolated Obesity JCEM Case Reports 2024/02/23
論文	PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 33 (3),169-173頁 2024
論文	Clinical features of ADH5/ALDH2 deficiency during childhood The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Diabetic lipemia as a predisposing state to acute pancreatitis: a case report and literature review The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	What is the best management for asymptomatic 3-methylglutaconic aciduria type 1 detected by newborn screening? Case and review The 18th Congress of the Asian Society for Pediatric Research 2023/11
論文	Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites. Molecular genetics and metabolism,107703-107703頁 2023/09/28
論文	Diabetic lipemia as a predisposing state to acute pancreatitis: a case report and literature review. Diabetology international 14 (3),304-311頁 2023/07
論文	Long-term trends of pediatric type 1 diabetes incidence in Japan before and after the COVID-19 pandemic. Scientific reports 13 (1),5803-5803頁 2023/04/10
論文	Long-term trends of pediatric type 1 diabetes incidence in Japan: before and during the COVID- 19 pandemic years (1999–2021) International Meeting in Pediatric Endocrinology 2023 2023/03
論文	Sarcopenia in children with acute leukemia was worsening after induction therapy The 11th International Meeting of Pediatric endocrinology 2023/03
論文	Monitoring treatment in pediatric patients with 21-hydroxylase deficiency Frontiers in Endocrinology 14 2023/02/03
論文	Knowns and unknowns about congenital hypothyroidism: 2022 update Clinical Pediatric Endocrinology 32 (1),11-25頁 2023
論文	Pubertal induction in Turner syndrome without gonadal function: A possibility of earlier, lower-dose estrogen therapy. Frontiers in endocrinology 14,1051695-1051695頁 2023
論文	Onasemnogene Abeparvovec Treatment after Nusinersen in an Infant with Spinal Muscular Atrophy Type 1 The Kurume Medical Journal 69 (3.4),255-259頁 2022/12/31
論文	Acute myeloid leukemia associated with CHARGE syndrome. American journal of medical genetics. Part A 191 (3),878-881頁 2022/12/21
論文	A Seven-Year-Old Girl With Dysphagia Due to Fear of Swallowing: A Favorable Outcome With Cognitive Behavioral Therapy Using an Anxiety Hierarchy Chart. Cureus 14 (12),e33196 2022/12
論文	A longitudinal ulcer due to Yersinia pseudotuberculosis infection in a girl. Pediatrics international : official journal of the Japan Pediatric Society 64 (1),e15036 2022/01
論文	Atypical food protein‐induced enterocolitis syndrome after vaccinations Pediatrics International 64 (1),e14891 2022/01
論文	First Morning Pregnanetriol and 17-Hydroxyprogesterone Correlated Significantly in 21-Hydroxylase Deficiency Frontiers in Endocrinology 12 2022/01
論文	An autopsy case of recurrent pneumothorax and peliosis-like intrapulmonary hematoma with X-linked myotubular myopathy Brain and Development 44 (3),234-238頁 2021/11
論文	Starting age of oestrogen-progestin therapy is negatively associated with bone mineral density in young adults with Turner syndrome independent of age and body mass index. Clinical endocrinology 95 (1),84-91頁 2021/07
論文	Hydrocortisone improved dexamethasone-induced neuropsychological adverse effects. Pediatrics international : official journal of the Japan Pediatric Society 63 (3),339-342頁 2021/03
論文	A Japanese infant presenting with hypocalcemic seizures resulting from hypovitaminosis D induced by non-celiac gluten sensitivity. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 30 (2),105-110頁 2021
論文	Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele Clinical Pediatric Endocrinology 30 (4),187-193頁 2021
論文	A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess. CEN case reports 10 (2),241-243頁 2020/11/07
論文	A retrospective multicenter study of bone mineral density in adolescents and adults with Turner syndrome in Japan. Endocrine journal 67 (10),1023-1028頁 2020/10/28
論文	無呼吸発作,低血糖で発症し高アンモニア血症を合併した先天性複合型下垂体機能低下症日本小児科学会雑誌 124 (8),1234-1238頁 2020/08
論文	A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations. Clinical dysmorphology 29 (1),49-52頁 2020/01
論文	Sphenoethmoidal meningoencephalocele with variable hypopituitarism: A case report and review of literature. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 29 (4),183-187頁 2020
論文	Ultra-low-dose estrogen therapy for female hypogonadism. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 29 (2),49-53頁 2020
論文	Levothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan. Hormone research in paediatrics 92 (1),45-51頁 2019
論文	A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. European journal of medical genetics 61 (6),312-314頁 2018/06
論文	タンデムマス法による新生児マススクリーニング検査により早期診断した原発性全身性カルニチン欠乏症の乳児例アルメイダ医報 43 (1),55-59頁 2018/06
論文	A Patient With Dual Ectopic Thyroid Starting Thyroid Hormone Replacement Therapy at Age 25 Years International Journal of Pediatrics & Neonatal Care 3 (2) 2017/12/14
論文	Central hypoadrenocorticism associated with Rathke's cleft cyst. Neuro endocrinology letters 38 (3),141-144頁 2017/07
論文	Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome. Hormone research in paediatrics 88 (3-4),285-290頁 2017
論文	Overexpression of p53 but not Rb in the cytoplasm of neurons and small vessels in an autopsy of a patient with Cockayne syndrome. Neuropathology : official journal of the Japanese Society of Neuropathology 35 (3),266-72頁 2015/06
論文	Valproic acid exacerbated infantile spasms and induced novel complex partial seizures in an infant with non-ketotic hyperglycinemia Epilepsy and Seizure 7 (1),30-36頁 2014