Kanako Ishii-Kojima
Fukuoka, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 19 publications
Three Siblings Born to the Same Mother with Varying Degrees of Strong Positivity for Blocking Type TSH Receptor Antibodies.
Journal: Internal medicine (Tokyo, Japan)
Published: September 03, 2025
Functional Noncoding Variants in a TTTG Microsatellite on Chromosome 15q26.1 Are a Common Genetic Etiology of Congenital Hypothyroidism with Thyroid Gland in situ.
Journal: Hormone research in paediatrics
Published: December 03, 2024
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Journal: Molecular genetics & genomic medicine
Published: October 29, 2023
The immunoreactive signature of monocyte-derived dendritic cells from patients with Down syndrome.
Journal: Clinical and experimental immunology
Published: August 15, 2023
A preterm newborn-onset juvenile myelomonocytic leukemia-like myeloproliferation with PTPN11 mutation.
Journal: Pediatric blood & cancer
Published: April 29, 2022
Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation.
Journal: Frontiers in pediatrics
Published: March 17, 2022
The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: February 10, 2022
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Journal: Journal of inherited metabolic disease
Published: September 08, 2021
Current status of newborn screening for Pompe disease in Japan.
Journal: Orphanet journal of rare diseases
Published: May 06, 2021
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Journal: Molecular genetics and metabolism reports
Published: January 23, 2021
Malignant transformation of phosphaturic mesenchymal tumor: a case report and literature review.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: October 14, 2019
Growth impairment in individuals with citrin deficiency.
Journal: Journal of inherited metabolic disease
Published: October 08, 2018
Last Updated: 09/26/2026