I. Akaboshi

发表

Molecular diagnosis of maple syrup urine disease: Screening and identification of gene mutations in the branched-chain α-ketoacid dehydrogenase multienzyme complex

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1992, Journal of Inherited Metabolic Disease.

Complete Defect of the E1,f Subunit of the Branched Chain a-Ketoacid Dehydrogenase Complex Due to a Deletion of an 11-bp Repeat Sequence which Encodes a Mitochondrial Targeting Leader Peptide in a Family with the Disease

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1991 .

Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1991, The Journal of clinical investigation.

Accelerated Weight Gain Subsequent to Postnatal Slow Weight Gain and Overweight Risk in Early Childhood: A Nested Case-Control Study

I. Akaboshi, 2019, Annals of Nutrition and Metabolism.

Taller stature after postnatal rapid weight gain in early infancy predicts overweight status at age 3

I. Akaboshi, Yougo Haraguchi, Y. Mizumoto, 2008, Acta paediatrica.

Chest circumference in infancy predicts obesity in 3-year-old children.

I. Akaboshi, Yougo Haraguchi, Y. Mizumoto, 2012, Asia Pacific journal of clinical nutrition.

Study of a female patient with ornithine transcarbamylase deficiency: Detection of a nonsense mutation

Y. Kuroda, I. Akaboshi, I. Matsuda, 1989, Journal of Inherited Metabolic Disease.

Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity

I. Akaboshi, Y. Jinno, T. Katsuki, 2004, Human Genetics.

Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1990, The Journal of clinical investigation.

rhG-CSF for Shwachman's syndrome

I. Akaboshi, H. Nunoi, H. Tsuchiya, 1990, The Lancet.

Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

Y. Kuroda, I. Akaboshi, I. Matsuda, 1989, American journal of human genetics.

The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: Possible linkage between HLA and the neuraminidase deficiency gene

I. Akaboshi, I. Matsuda, S. Naito, 1985, Human Genetics.

Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.

M. Takiguchi, I. Akaboshi, I. Matsuda, 1990, The Journal of clinical investigation.

An unusual case of thrombocytosis associated with concurrent cytomegalovirus and respiratory syncytial virus infection in an immunocompetent infant: possible roles of thrombopoietin and interleukin-6.

I. Akaboshi, Toshio Tanaka, A. Abe, 2005, The Journal of infection.

Elevated serum levels of interleukin-10 in children with acute rubella infection.

I. Akaboshi, K. Iwaki, I. Nagayoshi, 2001, Scandinavian journal of infectious diseases.

Immunochemical evidence of pyruvate dehydrogenase (E1) deficiency

F. Endo, A. Kitano, I. Akaboshi, 1988, Journal of Inherited Metabolic Disease.

Methylmalonic acidemia

I. Akaboshi, I. Matsuda, S. Hattori, 2004, European Journal of Pediatrics.

UNIQUE PATTERN OF EPSTEIN-BARR VIRUS SPECIFIC ANTIBODIES IN RECURRENT PAROTITIS

I. Akaboshi, I. Matsuda, T. Katsuki, 1983, The Lancet.

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

I. Akaboshi, I. Matsuda, C. Setoyama, 2005, Human Genetics.

Identification of Two Discrete Frame-shift Deletions in the Uver-type Arginase Gene

I. Akaboshi, I. Matsuda, M. Mori, 1990 .

Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.

F. Endo, I. Akaboshi, I. Matsuda, 1991, The Journal of clinical investigation.

Complete Primary Structure of the ElS Subunit of Human Branched Chain a-Ketoacid Dehydrogenase Complex Deduced from the Nucleotide Sequence and a Gene Analysis of Patients with This Disease

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1990 .

Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

F. Endo, A. Kitano, I. Akaboshi, 1987, The Journal of clinical investigation.

Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2

Y. Fukushima, N. Niikawa, Y. Kaneko, 1991, Human Genetics.

Maple syrup urine disease: Clinical and biochemical significance of gene analysis

Y. Nobukuni, F. Endo, H. Mitsubuchi, 1991, Journal of Inherited Metabolic Disease.

Heterogeneous phenotypes of Japanese cases with a growth hormone gene deletion

F. Endo, I. Akaboshi, I. Matsuda, 1987, Japanese Journal of Human Genetics.

Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease

I. Akaboshi, Y. Jinno, I. Matsuda, 2004, Human Genetics.

Citrullinemia presenting as uncontrollable epilepsy

I. Akaboshi, I. Matsuda, Y. Origuchi, 1984, Brain & development (Tokyo. 1979).

Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinaemia

T. Saheki, F. Endo, I. Akaboshi, 1983, Journal of Inherited Metabolic Disease.

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity

Y. Nobukuni, F. Endo, I. Akaboshi, 1988, Human Genetics.

Maple Syrup Urine Disease Caused by a Partial Deletion in the Inner E 2 Core Domain of the Branched Chain a-Keto Acid Dehydrogenase Complex due to Aberrant Splicing

Y. Nobukuni, F. Endo, I. Akaboshi, 2013 .

Lysine Intolerance in a Variant Form of Citrullinemia

I. Akaboshi, N. Nagata, S. Arashima, 1979, Pediatric Research.

Ornithine transcarbamylase (OTC) in white blood cells and jejunal mucosa.

F. Endo, I. Akaboshi, I. Matsuda, 1982, Advances in experimental medicine and biology.

Ornithine Transcarbamylase (OTC) in White Blood Cells

I. Akaboshi, I. Matsuda, N. Nagata, 1980, Pediatric Research.

Maple syrup urine disease: Complete primary structure of the E1β subunit of human branched chain α-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease

Y. Nobukuni, H. Mitsubuchi, I. Akaboshi, 1990 .