Y. Kohno

The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity

T. Fukao, N. Kondo, S. Yamaguchi, 2003, Journal of Inherited Metabolic Disease.

Single base substitutions at the initiator codon in the mitochondrial acetoacetyl‐CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild‐type T2 polypeptide

Naomi Kondo, T. Fukao, N. Kondo, 2003, Human mutation.

A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.

C. Pérez-Cerdá, M. Ugarte, T. Fukao, 2001, Molecular genetics and metabolism.

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.

Haruki Nakamura, C. Pérez-Cerdá, M. Ugarte, 2002, Molecular genetics and metabolism.

A case of glutaric aciduria type I with unique abnormalities in the cerebral CT findings.

S. Yamaguchi, T. Orii, Y. Kohno, 1987, The Tohoku journal of experimental medicine.

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl‐CoA thiolase deficiency

T. Hashimoto, T. Fukao, N. Kondo, 1998, Human mutation.

Management of acute metabolic decompensation in maple syrup urine disease: A multi‐center study

Y. Kuroda, Kazuko Hashimoto, Y. Koga, 1999, Pediatrics international : official journal of the Japan Pediatric Society.

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Y. Matsubara, K. Hayasaka, Y. Aoki, 2004, Molecular genetics and metabolism.