Yoko Saito
Tokyo, 1138510, Japan
Last Updated: 09/26/2026
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Found 20 publications
Gonadotropin Suppression During Mini-Puberty as an Early Biomarker of Classic 21-Hydroxylase Deficiency.
Journal: Endocrinology, diabetes & metabolism
Published: June 27, 2026
Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.
Journal: Congenital anomalies
Published: February 20, 2026
Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.
Journal: Endocrine journal
Published: November 24, 2025
A Two-Step LC-MS/MS method to differentiate 21OHD and PORD in Screen-Positive newborns.
Journal: Endocrine
Published: November 14, 2025
Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 30, 2025
Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 30, 2025
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: Journal of human genetics
Published: January 10, 2025
Severe hepatic steatosis contributes to liver dysfunction in non-obese patients with insulin-resistant diabetes mellitus after hematopoietic stem cell transplantation.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: December 17, 2024
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome.
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome.
Journal: Journal of human genetics
Published: August 24, 2024
A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.
Journal: Clinical dysmorphology
Published: February 13, 2024
Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: January 09, 2024
A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation.
Journal: European journal of medical genetics
Published: June 12, 2023
Last Updated: 09/26/2026