佐藤 武志

Clinicopathological and genomic analysis of pediatric pheochromocytoma and sympathetic paraganglioma. 

Endocrine journal 72(4) 399-412 2025年4月1日  

Letter to the Editor: Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 34(2) 149-150 2025年4月  

ACVRL1 and MTHFR double variants in an adolescent with paradoxical cerebral embolism. 

Pediatrics international : official journal of the Japan Pediatric Society 67(1) e70025 2025年  

Sex education to an adolescent male with Down syndrome in a single-mother family in Japan. 

Pediatrics international : official journal of the Japan Pediatric Society 67(1) e15896 2025年  

Genetic and Clinical Characteristics of 185 Japanese Children with 46,XY Differences of Sex Development. 

The Journal of clinical endocrinology and metabolism 2024年11月21日  

Establishment of Star-edited Y1 cells as a novel in vitro functional assay for STAR 

Journal of Molecular Endocrinology 2024年9月  

Letter to the Editor regarding “Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis” 

The Journal of Steroid Biochemistry and Molecular Biology 239 106484-106484 2024年5月  

Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline <scp>APC</scp> genetic testing: A case report 

Congenital Anomalies 64(3) 161-163 2024年2月28日  

A novel 2.4‐kb <scp>PHKA2</scp> deletion in a boy with glycogen storage disease type <scp>IXa</scp> 

Congenital Anomalies 64(2) 63-65 2024年2月15日  

DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives 

Hormone Research in Paediatrics 1-8 2024年2月15日  

<scp>RMRP</scp>‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review 

American Journal of Medical Genetics Part A 194(6) 2024年2月9日  

A novel &lt;i&gt;SOX2&lt;/i&gt; frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism 

Clinical Pediatric Endocrinology 33(4) 244-248 2024年  

Adrenal crisis during a trip in a young child with septo-optic dysplasia 

Clinical Pediatric Endocrinology 33(2) 101-103 2024年  

Potential indication of chemotherapy for hypodipsia and arginine vasopressin deficiency secondary to hypothalamic-pituitary Langerhans cell histiocytosis: a case report and literature review 

Clinical Pediatric Endocrinology 33(3) 157-162 2024年  

Usefulness of a mobile airwayscope with a monitor in examination of the external genitalia of a 483 g female neonate 

Pediatrics International 66(1) 2024年1月  

Siblings of neonatal hyperbilirubinemia with &lt;i&gt;UGT1A1&lt;/i&gt; double missense variants 

Clinical Pediatric Endocrinology 33(3) 195-198 2024年  

Characteristic external genitalia in male neonates with 5α-reductase deficiency 

Endocrine Journal 2024年  

Parathyroid adenoma with a somatic CASR pathogenic variant: A pediatric case report. 

Pediatric blood & cancer e30687 2023年9月20日  

Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees. 

Journal of pediatric endocrinology & metabolism : JPEM 36(8) 786-790 2023年8月28日  

Potential usefulness of assessing serum betamethasone levels during betamethasone therapy. 

Journal of pediatric endocrinology & metabolism : JPEM 36(7) 697-699 2023年7月26日