First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child

por Nyuzuki, Hiromi, Yamazaki, Taro, Saito, Megumi, Ohtake, Akira
Publicado 2019

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II

por Yamazaki, Narutoshi, Ohira, Mari, Takada, Shuji, Ohtake, Akira, Onodera, Masafumi, Nakanishi, Mahito, Okuyama, Torayuki, Mashima, Ryuichi
Publicado 2023

Guidance for Pediatric Familial Hypercholesterolemia 2017

por Harada-Shiba, Mariko, Ohta, Takao, Ohtake, Akira, Ogura, Masatsune, Dobashi, Kazushige, Nohara, Atsushi, Yamashita, Shizuya, Yokote, Koutaro
Publicado 2018

A Japanese family with P102L Gerstmann–Sträussler–Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report

por Ota, Kazumichi, Nakazato, Yoshihiko, Yokoyama, Ryu, Kawasaki, Hitoshi, Tamura, Naotoshi, Ohtake, Akira, Saito-Tsuruoka, Megumi, Yamamoto, Toshimasa
Publicado 2021

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

por Imai, Atsuko, Kohda, Masakazu, Nakaya, Akihiro, Sakata, Yasushi, Murayama, Kei, Ohtake, Akira, Lathrop, Mark, Okazaki, Yasushi, Ott, Jurg
Publicado 2016

Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

por Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Matsumoto, Shirou, Takada, Fumio, Tsuboi, Kazuya, Ohtake, Akira, Endo, Fumio, Nakamura, Kimitoshi
Publicado 2020

Successful recovery from severe hypertension in a patient with Leigh syndrome

por Arai, Yuto, Kosugiyama, Kiyotaka, Tamura, Takuya, Matsumoto, Sasagu, Sudo, Akira, Shiraishi, Hideaki, Ivor, Cammack, Ohtake, Akira, Nagumo, Kiyoshi
Publicado 2020

Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022

por Harada-Shiba, Mariko, Ohtake, Akira, Sugiyama, Daisuke, Tada, Hayato, Dobashi, Kazushige, Matsuki, Kota, Minamino, Tetsuo, Yamashita, Shizuya, Yamamoto, Yukiyo
Publicado 2023

Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

por Lim, Sze Chern, Tajika, Makiko, Shimura, Masaru, Carey, Kirstyn T., Stroud, David A., Murayama, Kei, Ohtake, Akira, McKenzie, Matthew
Publicado 2018

Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation

por Shimizu, Kenji, Oba, Daiju, Nambu, Ryusuke, Tanaka, Manabu, Oguma, Eiji, Murayama, Kei, Ohtake, Akira, Yoshiura, Koh‐ichiro, Ohashi, Hirofumi
Publicado 2020

Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL

por Borna, Nurun Nahar, Kishita, Yoshihito, Sakai, Norio, Hamada, Yusuke, Kamagata, Koji, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Publicado 2020

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

por Kishita, Yoshihito, Ishikawa, Kaori, Nakada, Kazuto, Hayashi, Jun-Ichi, Fushimi, Takuya, Shimura, Masaru, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Publicado 2021

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

por Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi
Publicado 2017

Loss of mitochondrial fatty acid β‐oxidation protein short‐chain Enoyl‐CoA hydratase disrupts oxidative phosphorylation protein complex stability and function

por Burgin, Harrison, Sharpe, Alice J., Nie, Shuai, Ziemann, Mark, Crameri, Jordan J., Stojanovski, Diana, Pitt, James, Ohtake, Akira, Murayama, Kei, McKenzie, Matthew
Publicado 2022

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

por Kishita, Yoshihito, Shimura, Masaru, Kohda, Masakazu, Akita, Masumi, Imai‐Okazaki, Atsuko, Yatsuka, Yukiko, Nakajima, Yoko, Ito, Tetsuya, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Publicado 2020

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening

por Bo, Ryosuke, Musha, Ikuma, Yamada, Kenji, Kobayashi, Hironori, Hasegawa, Yuki, Awano, Hiroyuki, Arao, Masato, Kikuchi, Toru, Taketani, Takeshi, Ohtake, Akira, Yamaguchi, Seiji, Iijima, Kazumoto
Publicado 2020

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

por Shimbo, Hiroko, Takagi, Mariko, Okuda, Mitsuko, Tsuyusaki, Yu, Takano, Kyoko, Iai, Mizue, Yamashita, Sumimasa, Murayama, Kei, Ohtake, Akira, Goto, Yu-ichi, Aida, Noriko, Osaka, Hitoshi
Publicado 2014

Efficacy and Safety of Pitavastatin in Children and Adolescents with Familial Hypercholesterolemia in Japan and Europe

por Harada-Shiba, Mariko, Kastelein, John J.P., Hovingh, G. Kees, Ray, Kausik K., Ohtake, Akira, Arisaka, Osamu, Ohta, Takao, Okada, Tomoo, Suganami, Hideki, Wiegman, Albert
Publicado 2018

Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

por Suzuki-Ajihara, Sayaka, Saito-Tsuruoka, Megumi, Harashima, Hiroko, Arai, Katsumi, Koide, Hiroyoshi, Yatsuka, Yukiko, Imai-Okazaki, Atsuko, Okazaki, Yasushi, Murayama, Kei, Numakura, Chikahiko, Akioka, Yuko, Ohtake, Akira
Publicado 2023

Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction i...

por Hirono, Keiichi, Ichida, Fukiko, Nishio, Natsuhito, Ogawa‐Tominaga, Minako, Fushimi, Takuya, Feichtinger, Rene′ G., Mayr, Johannes A., Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Ohtake, Akira, Murayama, Kei
Publicado 2019