Recurrent Optic Neuropathy Caused by a Mucocele of the Anterior Clinoid Process after a 5-Year Remission: A Case Report and Literature Review

Por Aoyama, Yuka, Ohtomo, Kazuyoshi, Sawamura, Hiromasa
Publicado no Neuroophthalmology (2014)

Identifying Areas of the Visual Field Important for Quality of Life in Patients with Glaucoma

Por Murata, Hiroshi, Hirasawa, Hiroyo, Aoyama, Yuka, Sugisaki, Kenji, Araie, Makoto, Mayama, Chihiro, Aihara, Makoto, Asaoka, Ryo
Publicado em 2013

Correction: Identifying Areas of the Visual Field Important for Quality of Life in Patients with Glaucoma

Por Murata, Hiroshi, Hirasawa, Hiroyo, Aoyama, Yuka, Sugisaki, Kenji, Araie, Makoto, Mayama, Chihiro, Aihara, Makoto, Asaoka, Ryo
Publicado no PLoS One (2015)

Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression

Por Akagawa, Shohei, Fukao, Toshiyuki, Akagawa, Yuko, Sasai, Hideo, Kohdera, Urara, Kino, Minoru, Shigematsu, Yosuke, Aoyama, Yuka, Kaneko, Kazunari
Publicado no JIMD Rep (2016)

Single‐nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene

Por Sasai, Hideo, Aoyama, Yuka, Otsuka, Hiroki, Abdelkreem, Elsayed, Nakama, Mina, Hori, Tomohiro, Ohnishi, Hidenori, Turner, Lesley, Fukao, Toshiyuki
Publicado no Mol Genet Genomic Med (2017)

Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patien...

Por AOYAMA, YUKA, YAMAMOTO, TOSHIYUKI, SAKAGUCHI, NAOMI, ISHIGE, MIKA, TANAKA, TOJU, ICHIHARA, TOMOKO, OHARA, KATSUAKI, KOUZAN, HIROKO, KINOSADA, YASUTOMI, FUKAO, TOSHIYUKI
Publicado no Int J Mol Med (2015)

AB076. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis

Por Sasai, Hideo, Aoyama, Yuka, Otsuka, Hiroki, Abdelkreem, Elsayed, Naiki, Yasuhiro, Kubota, Mitsuru, Sekine, Yuji, Itoh, Masatsune, Nakama, Mina, Ohnishi, Hidenori, Fujiki, Ryoji, Ohara, Osamu, Fukao, Toshiyuki
Publicado no Ann Transl Med (2017)

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency

Por Abdelkreem, Elsayed, Akella, Radha Rama Devi, Dave, Usha, Sane, Sudhir, Otsuka, Hiroki, Sasai, Hideo, Aoyama, Yuka, Nakama, Mina, Ohnishi, Hidenori, Mahmoud, Shaimaa, Abd El Aal, Mohamed, Fukao, Toshiyuki
Publicado no JIMD Rep (2016)