Yasukazu Yamada
Kasugai, Japan
Last Updated: 09/26/2026
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Found 18 publications
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.
Journal: European journal of medical genetics
Published: July 10, 2023
Novel mutation in HPRT1 causing a splicing error with multiple variations.
Journal: Nucleosides, nucleotides & nucleic acids
Published: October 19, 2016
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report
Journal: Rinsho shinkeigaku = Clinical neurology
Published: November 26, 2014
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.
Journal: Molecular genetics and metabolism reports
Published: October 03, 2014
Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: July 10, 2014
Proteomic analysis to examine the role of matrix proteins in a gouty tophus from a patient with recurrent gout.
Journal: Nucleosides, nucleotides & nucleic acids
Published: June 19, 2014
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Journal: Nucleosides, nucleotides & nucleic acids
Published: June 19, 2014
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Journal: American journal of medical genetics. Part A
Published: November 20, 2013
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Journal: Brain : a journal of neurology
Published: August 27, 2013
Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.
Journal: American journal of medical genetics. Part A
Published: July 30, 2013
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Journal: American journal of medical genetics. Part A
Published: July 18, 2013
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.
Journal: Journal of biochemistry
Published: November 07, 2012
Last Updated: 09/26/2026