Urea cycle disorders-update von Matsumoto, Shirou, Häberle, Johannes, Kido, Jun, Mitsubuchi, Hiroshi, Endo, Fumio, Nakamura, Kimitoshi

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Advances in inborn errors of metabolism von Fukao, Toshiyuki, Nakamura, Kimitoshi

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Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study von Inoue, Takahito, Hattori, Kiyoko, Ihara, Kenji, Ishii, Atsushi, Nakamura, Kimitoshi, Hirose, Shinichi

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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients von Momosaki, Ken, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Miyamoto, Tatsuki, Inoue, Takahito, Okumiya, Toshika, Matsumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi

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Gene therapy for lysosomal storage diseases: Current clinical trial prospects von Kido, Jun, Sugawara, Keishin, Nakamura, Kimitoshi

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Prediction scores based on neonatal inflammatory markers for chorioamnionitis and funisitis in extremely low gestational age neonates von Yoshimatsu, Hidetaka, Iwai, Masanori, Kitabatake, Yasuji, Ozono, Keiichi, Nakamura, Kimitoshi

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Circulating extracellular vesicle microRNAs associated with adverse reactions, proinflammatory cytokine, and antibody production after COVID-19 vaccination von Miyashita, Yusuke, Yoshida, Takanobu, Takagi, Yuriko, Tsukamoto, Hirotake, Takashima, Ken, Kouwaki, Takahisa, Makino, Katsunari, Fukushima, Satoshi, Nakamura, Kimitoshi, Oshiumi, Hiroyuki

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Transitional Medicine of Intractable Primary Dyslipidemias in Japan von Ogura, Masatsune, Okazaki, Sachiko, Okazaki, Hiroaki, Tada, Hayato, Dobashi, Kazushige, Nakamura, Kimitoshi, Matsunaga, Keiji, Miida, Takashi, Minamino, Tetsuo, Yokoyama, Shinji, Harada-Shiba, Mariko

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Immune-regulatory microRNA expression levels within circulating extracellular vesicles correspond with the appearance of local symptoms after seasonal flu vaccination von Miyashita, Yusuke, Ishikawa, Kana, Fukushima, Yoshimi, Kouwaki, Takahisa, Nakamura, Kimitoshi, Oshiumi, Hiroyuki

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Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH von Hama, Rina, Kido, Jun, Sugawara, Keishin, Nakamura, Toshiro, Nakamura, Kimitoshi

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Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review von Kido, Jun, Sugawara, Keishin, Sawada, Takaaki, Matsumoto, Shirou, Nakamura, Kimitoshi

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Diagnosis and Management of Sitosterolemia 2021 von Tada, Hayato, Nomura, Akihiro, Ogura, Masatsune, Ikewaki, Katsunori, Ishigaki, Yasushi, Inagaki, Kyoko, Tsukamoto, Kazuhisa, Dobashi, Kazushige, Nakamura, Kimitoshi, Hori, Mika, Matsuki, Kota, Yamashita, Shizuya, Yokoyama, Shinji, Kawashiri, Masa-aki, Harada-Shiba, Mariko

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Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease von Sawada, Jun, Nakagawa, Naoki, Kano, Kohei, Saito, Tsukasa, Katayama, Takayuki, Sawada, Takaaki, Momosaki, Ken, Nakamura, Kimitoshi, Hasebe, Naoyuki

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Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan von Kido, Jun, Häberle, Johannes, Sugawara, Keishin, Tanaka, Toju, Nagao, Masayoshi, Sawada, Takaaki, Wada, Yoichi, Numakura, Chikahiko, Murayama, Kei, Watanabe, Yoriko, Kojima‐Ishii, Kanako, Sasai, Hideo, Kosugiyama, Kiyotaka, Nakamura, Kimitoshi

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Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data von Giugliani, Roberto, Martins, Ana Maria, Okuyama, Torayuki, Eto, Yoshikatsu, Sakai, Norio, Nakamura, Kimitoshi, Morimoto, Hideto, Minami, Kohtaro, Yamamoto, Tatsuyoshi, Yamaoka, Mariko, Ikeda, Toshiaki, So, Sairei, Tanizawa, Kazunori, Sonoda, Hiroyuki, Schmidt, Mathias, Sato, Yuji

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LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiation von Anan, Kotaro, Hino, Shinjiro, Shimizu, Noriaki, Sakamoto, Akihisa, Nagaoka, Katsuya, Takase, Ryuta, Kohrogi, Kensaku, Araki, Hirotaka, Hino, Yuko, Usuki, Shingo, Oki, Shinya, Tanaka, Hirotoshi, Nakamura, Kimitoshi, Endo, Fumio, Nakao, Mitsuyoshi

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New reference ranges of procalcitonin excluding respiratory failure in neonates von Naramura, Tetsuo, Tanaka, Kenichi, Inoue, Takeshi, Imamura, Hiroko, Yoshimatsu, Hidetaka, Mitsubuchi, Hiroshi, Nakamura, Kimitoshi, Iwai, Masanori

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Severe metabolic acidosis with cardiac involvement in DNM1L‐related mitochondrial encephalopathy von Kinoshita, Yuya, Momosaki, Ken, Matsumoto, Shirou, Murayama, Kei, Nakamura, Kimitoshi

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Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan von Kido, Jun, Matsumoto, Shirou, Häberle, Johannes, Inomata, Yukihiro, Kasahara, Mureo, Sakamoto, Seisuke, Horikawa, Reiko, Tanemura, Akihiro, Okajima, Hideaki, Suzuki, Tatsuya, Nakamura, Kimitoshi

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Pharmacokinetics, safety, and tolerability of sodium phenylacetate and sodium benzoate in healthy Japanese volunteers: A phase I, single-center, open-label study von Endo, Fumio, Nakamura, Kimitoshi, Sano, Yuuhei, Dote, Nobuhito, Shimizu, Kohei, Koumura, Emiko

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