I. Yoshida

发表

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

F. Endo, T. Nakahata, H. Mitsubuchi, 2002, Human Genetics.

Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease.

I. Yoshida, T. Kuhara, I. Matsumoto, 1999, Journal of chromatography. B, Biomedical sciences and applications.

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients

S. Seneca, H. Mandel, L. de Meirleir, 2003, Human mutation.

Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene

Y. Matsubara, T. Kitagawa, H. Shintaku, 2004, Pediatric Research.

Maple syrup urine disease: Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip

I. Yoshida, M. Yoshino, H. Kato, 1998, Journal of Inherited Metabolic Disease.

Elimination of CO2 in patients with carbonic anhydrase II deficiency, with studies of respiratory function at rest.

I. Yoshida, K. Taki, H. Kato, 1999, Respiratory medicine.

A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement

I. Yoshida, Y. Koga, H. Kato, 1996, Human Genetics.

Lipid storage myopathy associated with recurrent Reye syndrome-like attacks, but with a normal carnitine level

T. Matsuishi, I. Yoshida, M. Yoshino, 1988, Brain and Development.

Prenatal diagnosis and therapy for a patient with vitamin B12-responsive methylmalonic acidaemia

H. Mikami, K. Narisawa, I. Yoshida, 1995, Journal of Inherited Metabolic Disease.

Glycerol kinase deficiency: Evidence for complexity in a single gene disorder

J. Dallongeville, E. McCabe, K. Dipple, 2001, Human Genetics.

Effect of supplementation with L-carnitine at a small dose on acylcarnitine profiles in serum and urine and the renal handling of acylcarnitines in a patient with multiple acyl-coenzyme A dehydrogenation defect.

S. Yamaguchi, Yoriko Watanabe, Y. Shigematsu, 2003, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

J. Kira, Y. Matsubara, F. Taroni, 1998, Human mutation.

Mutations in the Canalicular Multispecific Organic Anion Transporter (cMOAT) Gene, a Novel ABC Transporter, in Patients with Hyperbilirubinemia II/Dubin-Johnson Syndrome

K. Kohno, T. Uchiumi, M. Kuwano, 1998 .

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.

K. Kohno, T. Uchiumi, M. Kuwano, 1998, Human molecular genetics.

Expression of ABCA3, a causative gene for fatal surfactant deficiency, is up-regulated by glucocorticoids in lung alveolar type II cells.

I. Yoshida, N. Inagaki, N. Ban, 2004, Biochemical and biophysical research communications.

Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr‐40 in exon 2, (Y40X)

I. Yoshida, Hirohisa Kato, S. Yukizane, 1995, Human mutation.

Acute encephalopathy with hyperammonemia and dicarboxylic aciduria during calcium hopantenate therapy: A patient report

T. Matsuishi, I. Yoshida, T. Kuhara, 1986, Brain and Development.

Carbonic anhydrase II deficiency in three unrelated Japanese patients

I. Yoshida, M. Yoshino, F. Yamashita, 1993, Journal of Inherited Metabolic Disease.

Thymic hyperplasia in patients with Graves' disease. Identification of thyrotropin receptors in human thymus.

H. Yokoo, I. Yoshida, M. Yamada, 1996, The Journal of clinical investigation.

Persistent hyperkalaemia in vitamin B12 unresponsive methylmalonic acidaemia

I. Yoshida, J. Morita, M. Yoshino, 1989, Journal of Inherited Metabolic Disease.