Hideo Sasai
Gifu-shi, 5011194, Japan
Last Updated: 09/26/2026
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Found 62 publications
DGUOK-related mitochondrial DNA depletion syndrome presenting with neonatal cholestasis without marked hyperlactatemia: A diagnostic pitfall.
Journal: Molecular genetics and metabolism reports
Published: February 27, 2026
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.
Journal: Biochemistry and biophysics reports
Published: December 22, 2025
Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.
Journal: Molecular genetics and metabolism
Published: December 12, 2025
Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic OXCT1 variant (L131_E132dup) and its pathophysiological basis.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: October 02, 2025
Craniometaphyseal dysplasia: The importance of genetic diagnosis based on delayed eruption of permanent teeth.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: February 19, 2025
First Japanese case of DNAJC12 deficiency diagnosed after 18 years of follow-up for mild hyperphenylalaninemia.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: January 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.
Journal: Orphanet journal of rare diseases
Published: December 05, 2024
Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.
Journal: The Tohoku journal of experimental medicine
Published: November 06, 2024
Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.
Journal: Molecular genetics & genomic medicine
Published: January 15, 2024
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Journal: International journal of neonatal screening
Published: November 30, 2023
Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: November 14, 2023
Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: October 29, 2023
Last Updated: 09/26/2026