M. Kajita

发表

The first case of 4-hydroxybutyric aciduria in Japan

Y. Ishiguro, Kazuyoshi Watanabe, S. Yamaguchi, 2001, Brain and Development.

Quantification of serum 1,5-anhydroglucitol in uremic and diabetic patients by liquid chromatography/mass spectrometry.

T. Miyazaki, T. Niwa, M. Kajita, 1994, Clinical chemistry.

Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin–Johnson syndrome

T. Uchiumi, D. Kang, Tomotake Kanki, 2013, Hepatology research : the official journal of the Japan Society of Hepatology.

Liquid chromatographic-atmospheric pressure chemical ionization mass spectrometric analysis of glycine conjugates and urinary isovalerylglycine in isovaleric acidemia.

Y. Wada, T. Niwa, T. Ito, 1995, Journal of chromatography. B, Biomedical applications.

The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations

K. Yokochi, N. Nomura, R. Kosaki, 2014, American journal of medical genetics. Part A.

Human glycine decarboxylase gene ( GLDC) and its highly conserved processed pseudogene ( ψ GLDC) : their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

Y. Ohya, Y. Matsubara, K. Narisawa, 2000 .

For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns

K. Shimada, I. Matsuda, C. Setoyama, 1993, Human Genetics.

Rapid detection of deletion mutations in inherited metabolic diseases by melting curve analysis with LightCycler.

K. Shimokata, Y. Sekido, T. Niwa, 2000, Clinical chemistry.

Analysis of urinary organic acids by liquid chromatography-atmospheric pressure chemical ionization mass spectrometry.

T. Niwa, M. Kajita, K. Watanabe, 1993, Journal of chromatography.

A Case of Infantile Febrile Psoriasiform Dermatitis

K. Hara, Kazuyoshi Watanabe, M. Ohashi, 1995, Pediatric dermatology.

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis

H. Kurahashi, Y. Makita, S. Mizuno, 2017, Cytogenetic and Genome Research.

Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.

K. Tachibana, Y. Oka, T. Amachi, 2000, Diabetes.

Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103–121del and 1460T > A of the ALDH5A1 Gene

K. Shimokata, Y. Sekido, Y. Ishiguro, 2002, Human Heredity.

Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (ψGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

Y. Ohya, Y. Matsubara, K. Narisawa, 2000, Human Genetics.

Determination of glutathionyl hemoglobin in hemodialysis patients using electrospray ionization liquid chromatography-mass spectrometry.

T. Niwa, M. Kajita, C. Naito, 1999, Journal of chromatography. B, Biomedical sciences and applications.

Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis

T. Saheki, K. Shimokata, Y. Sekido, 2001, Prenatal diagnosis.

Novel Mutations (H337R and 238–362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency

T. Saheki, K. Shimokata, Y. Sekido, 2001, Human Heredity.

Gas chromatographic-mass spectrometric determination of erythrocyte 3-deoxyglucosone in diabetic patients.

T. Niwa, S. Tsukushi, M. Kajita, 2002, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Detection of 1-phenyl-N-methyl-1,2,3,4-tetrahydroisoquinoline and 1-phenyl-1,2,3,4-tetrahydroisoquinoline in human brain by gas chromatography-tandem mass spectrometry.

M. Naoi, T. Niwa, T. Nagatsu, 1995, Journal of chromatography. B, Biomedical applications.

A novel mutation (E358K) in the α‐galactosidase A gene detected in a Japanese family with Fabry disease

H. Seo, Y. Murata, T. Miyazaki, 1998, Human mutation.

Presence of N-methyldopamine in parkinsonian and normal human brains.

T. Niwa, T. Nagatsu, N. Takeda, 1993, Journal of chromatography.