髙澤 啓

Clinical features of neonatal Graves' disease revealed by twelve cases that require- antithyroid therapy. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 35(1) 57-66 2026年1月  

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature. 

Endocrine journal 2025年11月22日  

A case of autosomal dominant hypophosphatemic rickets. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 34(4) 275-279 2025年10月  

Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort. 

The Journal of clinical endocrinology and metabolism 2025年9月9日  

Marked improvement in severe pulmonary arterial hypertension following airway infection in a patient with a heterozygous BMP9 nonsense mutation: a case report. 

European heart journal. Case reports 9(9) ytaf386 2025年9月  

Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome. 

Brain & development 47(4) 104376-104376 2025年8月  

Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review. 

Cureus 17(7) e88327 2025年7月  

Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review. 

Journal of human genetics 70(6) 321-324 2025年6月  

A Premature Infant With Renal Tubular Dysgenesis Who Survived 61 Days With Anuria. 

Cureus 17(6) e86687 2025年6月  

Classic 21-hydroxylase deficiency in opposite-sex twins. 

Pediatrics international : official journal of the Japan Pediatric Society 67(1) e70058 2025年  

Persistence with daily growth hormone among children and adolescents with growth hormone deficiency in Japan. 

PloS one 20(8) e0324728 2025年  

Detorsion of Wandering Spleen Causes Significant Hypersplenism Resulting in Thrombocytopenia and Spinal Cord Injury: A Case Report. 

Surgical case reports 11(1) 2025年  

Severe hepatic steatosis contributes to liver dysfunction in non-obese patients with insulin-resistant diabetes mellitus after hematopoietic stem cell transplantation. 

Pediatrics international : official journal of the Japan Pediatric Society 67(1) e70192 2025年  

Pathogenic role and diagnostic utility of interferon-α in histiocytic necrotizing lymphadenitis. 

Clinical immunology (Orlando, Fla.) 266 110324-110324 2024年9月