Nobuyuki Ishige
Tokyo, 1628402, Japan
Last Updated: 09/26/2026
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Found 12 publications
Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan.
Journal: Journal of human immunity
Published: May 04, 2026
Comparison of Four Screening Markers [(C16 + C18:1)/C2, C14/C3, C12/C0, and C12/C2] for Carnitine Palmitoyltransferase II Deficiency in the Nationwide Newborn Screening Program in Japan.
Journal: International journal of neonatal screening
Published: January 22, 2026
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
The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.
Journal: The Journal of clinical endocrinology and metabolism
Published: June 04, 2022
Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.
Journal: International journal of neonatal screening
Published: May 21, 2021
Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis.
Journal: Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
Published: February 18, 2019
Hypocarnitinemia Observed in an Infant Treated with Short-Term Administration of Antibiotic Containing Pivalic Acid.
Journal: The Tohoku journal of experimental medicine
Published: April 10, 2018
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Journal: Molecular genetics and metabolism
Published: May 24, 2017
Elevation of pivaloylcarnitine by sivelestat sodium in two children.
Journal: Molecular genetics and metabolism
Published: August 09, 2015
Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).
Journal: Clinical and experimental nephrology
Published: March 30, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026