Hisakazu Nakajima
Kyoto, Japan
Last Updated: 09/26/2026
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Found 29 publications
Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Associated with the CSF1R p. (Ile843Thr) Variant: Clinical, Imaging, and Molecular Characterization.
Journal: Internal medicine (Tokyo, Japan)
Published: February 01, 2026
A case of Alström syndrome with growth hormone deficiency and dyslipidemia: a novel homozygous frameshift variant of ALMS1 c.5763del.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: January 01, 2026
Erythropoietin modulates hepatic inflammation, glucose homeostasis, and soluble epoxide hydrolase and epoxides in high-fat diet-induced obese mice.
Journal: FEBS open bio
Published: October 26, 2025
Anti-inflammatory effect of Angiotensin 1-7 in white adipose tissue.
Journal: Adipocyte
Published: January 13, 2025
A Japanese Boy with Dysmorphic Syndrome with Multiple Pituitary Hormone Deficiency and Gingival Fibromatosis Due to a Pathogenic KCNQ1 Variant.
Journal: Internal medicine (Tokyo, Japan)
Published: July 10, 2024
A patient with urinary succinylacetone-negative hereditary tyrosinemia type 1.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: December 27, 2022
High-fat diet during pregnancy lowers fetal weight and has a long-lasting adverse effect on brown adipose tissue in the offspring.
Journal: Journal of developmental origins of health and disease
Published: October 03, 2022
Association of Type 2 Deiodinase Thr92Ala Polymorphism with Pediatric Obesity in Japanese Children: A Case-Control Study.
Journal: Children (Basel, Switzerland)
Published: August 15, 2022
A Case of Infantile Alagille Syndrome With Severe Dyslipidemia: New Insight into Lipid Metabolism and Therapeutics.
Journal: Journal of the Endocrine Society
Published: July 15, 2021
Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1 (p.Lys41Thrfs∗2).
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: June 27, 2021
Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: November 29, 2020
An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: May 08, 2020
Last Updated: 09/26/2026