β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency von Wada, Yoichi, Arai‐Ichinoi, Natsuko, Kikuchi, Atsuo, Kure, Shigeo

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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age von Arai‐Ichinoi, Natsuko, Kikuchi, Atsuo, Wada, Yoichi, Sakamoto, Osamu, Kure, Shigeo

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Successful control of maternal phenylketonuria by tetrahydrobiopterin von Sakamoto, Osamu, Arai‐Ichinoi, Natsuko, Murayama, Kei, Kure, Shigeo

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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing von Togawa, Takao, MD, Sugiura, Tokio, MD, PhD, Ito, Koichi, MD, PhD, Endo, Takeshi, MD, PhD, Aoyama, Kohei, MD, Ohashi, Kei, MD, Negishi, Yutaka, MD, Kudo, Toyoichiro, MD, PhD, Ito, Reiko, MD, PhD, Kikuchi, Atsuo, MD, PhD, Arai-Ichinoi, Natsuko, MD, PhD, Kure, Shigeo, MD, PhD, Saitoh, Shinji, MD, PhD

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Patchy white matter hyperintensity in ring chromosome 18 syndrome von Anzai, Mai, Arai‐Ichinoi, Natsuko, Takezawa, Yusuke, Endo, Wakaba, Inui, Takehiko, Sato, Ryo, Kikuchi, Atsuo, Uematsu, Mitsugu, Kure, Shigeo, Haginoya, Kazuhiro

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Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia von Sakamoto, Osamu, Arai-Ichinoi, Natsuko, Mitsubuchi, Hiroshi, Chinen, Yasutsugu, Haruna, Hidenori, Maruyama, Hidehiko, Sugawara, Hidenori, Kure, Shigeo

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Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al von Takano, Chika, Ogawa, Erika, Arai-Ichinoi, Natsuko, Ishige, Mika

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Biallelic GALM pathogenic variants cause a novel type of galactosemia von Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo

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Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency von Inui, Takehiko, Wada, Yoichi, Shibuya, Moriei, Arai-Ichinoi, Natsuko, Okubo, Yukimune, Endo, Wakaba, Uchida, Toshihiko, Togashi, Noriko, Naito, Etsuo, Haginoya, Kazuhiro

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Hypoketotic hypoglycemia in citrin deficiency: a case report von Wada, Yoichi, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Sakamoto, Osamu, Kure, Shigeo

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Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion von Shima, Hirohito, Miura, Akinobu, Kawashima, Sayaka, Umeki, Ikumi, Sogi, Chisumi, Suzuki, Dai, Takezawa, Yusuke, Sato, Ryo, Arai-Ichinoi, Natsuko, Kamimura, Miki, Fujiwara, Ikuma, Adachi, Mika, Yamada, Aya, Kawame, Hiroshi, Kikuchi, Atsuo, Kanno, Junko

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Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13 von Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Matsubara, Yoichi, Saheki, Takeyori, Kobayashi, Keiko, Ohura, Toshihro, Kure, Shigeo

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Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia von Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo

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Reversible brain atrophy in glutaric aciduria type 1 von Numata-Uematsu, Yurika, Sakamoto, Osamu, Kakisaka, Yosuke, Okubo, Yukimune, Oikawa, Yoshitsugu, Arai-Ichinoi, Natsuko, Kure, Shigeo, Uematsu, Mitsugu

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Mucolipidosis IV: A milder form with novel mutations and serial MRI findings von Shiihara, Takashi, Watanabe, Mio, Moriyama, Kengo, Maruyama, Yasuhiro, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Uematsu, Mitsugu, Sameshima, Kiyoko

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Biallelic GALM pathogenicvariants cause a novel type of galactosemia von Wada Yoichi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Sakamoto, Osamu, Takezawa Yusuke, Iwasawa Shinya, Niihori Tetsuya, Nyuzuki Hiromi, Nakajima Yoko, Ogawa, Erika, Ishige Mika, Hirai Hiroki, Sasai Hideo, Fujiki Ryoji, Shirota Matsuyuki, Funayama Ryo, Yamamoto Masayuki, Ito Tetsuya, Ohara Osamu, Nakayama Keiko, Aoki Yoko, Koshiba Seizo, Fukao Toshiyuki, Kure Shigeo

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A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation von Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Togashi, Noriko, Sato, Ryo, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro

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Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency von Mikami-Saito, Yasuko, Maekawa, Masamitsu, Wada, Yoichi, Kanno, Tomoe, Kurihara, Ai, Sato, Yuko, Yamamoto, Toshio, Arai-Ichinoi, Natsuko, Kure, Shigeo

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Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation von Hino-Fukuyo, Naomi, Kikuchi, Atsuo, Iwasaki, Masaki, Sato, Yuko, Kubota, Yuki, Kobayashi, Tomoko, Nakayama, Tojo, Haginoya, Kazuhiro, Arai-Ichinoi, Natsuko, Niihori, Tetsuya, Sato, Ryo, Suzuki, Tasuku, Kudo, Hiroki, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kure, Shigeo

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The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants von Iwasawa, Shinya, Kikuchi, Atsuo, Wada, Yoichi, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Tamiya, Gen, Kure, Shigeo

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