Nobuyuki Shimozawa
Gifu-shi, Japan
Last Updated: 09/26/2026
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Found 57 publications
Phosphatidylcholine with C26:0 moiety, a precursor of a diagnostic marker for X-ALD, is synthesized by LPLAT10/LPEAT2.
Journal: Journal of lipid research
Published: November 19, 2025
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: August 04, 2025
Neurological Peroxisomal Disorders with a Focus on Adrenoleukodystrophy
Journal: Brain and nerve = Shinkei kenkyu no shinpo
Published: May 12, 2025
Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI.
Journal: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
Published: August 24, 2024
Analysis of five cases showing false-high Hemoglobin A1c due to reduced catalase activity.
Journal: Endocrine journal
Published: November 29, 2023
Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy.
Journal: The journal of medical investigation : JMI
Published: November 08, 2023
Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.
Journal: Molecular genetics and metabolism
Published: April 20, 2022
Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.
Journal: Brain & development
Published: December 26, 2021
Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy.
Journal: JIMD reports
Published: August 19, 2021
Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan.
Journal: International journal of neonatal screening
Published: July 21, 2021
Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients.
Journal: International journal of molecular sciences
Published: July 07, 2021
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.
Journal: Molecular genetics and metabolism
Published: February 24, 2021
Last Updated: 09/26/2026