Shuichi Aramaki

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.

Two novel gene mutations (Glu174→Lys, Phe383→Tyr) causing the “hepatic” form of carnitine palmitoyltransferase II deficiency

Yoshiyuki Suzuki, S. Yamamoto, A. Ohtake, 1996, Human Genetics.

Carbonic Anhydrase II Deficiency A Report of Two Cases

A. Fujiwara, K. Kusaba, A. Okue, 1994 .

Inter- and/or Intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy

S. Kato, Y. Koga, H. Kato, 2001, Acta Neuropathologica.

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.

Carbonic anhydrase II deficiency in three unrelated Japanese patients

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