Search Results - "Arai‐Ichinoi, Natsuko"

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

“…Galactose mutarotase (GALM) deficiency (MIM# 618881), also known as type IV galactosemia, is caused by biallelic pathogenic variants of GALM. Cataracts are…”
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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age by Arai‐Ichinoi, Natsuko, Kikuchi, Atsuo, Wada, Yoichi, Sakamoto, Osamu, Kure, Shigeo

“…Citrin deficiency develops in different symptomatic periods from the neonatal period to adulthood. Some infantile patients are diagnosed by newborn mass…”
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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing by 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

“…Objectives To ascertain a molecular genetic diagnosis for subjects with neonatal/infantile intrahepatic cholestasis (NIIC) by the use of next-generation…”
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Successful control of maternal phenylketonuria by tetrahydrobiopterin by Sakamoto, Osamu, Arai‐Ichinoi, Natsuko, Murayama, Kei, Kure, Shigeo

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

“…Ring chromosome 18 syndrome is a chromosomal abnormality in which partial deletions occur at both ends of chromosome 18, that is, distally on the short and…”
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Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia by Sakamoto, Osamu, Arai-Ichinoi, Natsuko, Mitsubuchi, Hiroshi, Chinen, Yasutsugu, Haruna, Hidenori, Maruyama, Hidehiko, Sugawara, Hidenori, Kure, Shigeo

“…Isovaleric acidemia (IVA) is an autosomal recessive inborn error affecting leucine metabolism. It is caused by a deficiency in isovaleryl-CoA dehydrogenase…”
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Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al by Takano, Chika, Ogawa, Erika, Arai-Ichinoi, Natsuko, Ishige, Mika

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Biallelic GALM pathogenic variants cause a novel type of galactosemia by 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

“…Purpose Galactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir…”
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Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency by Inui, Takehiko, Wada, Yoichi, Shibuya, Moriei, Arai-Ichinoi, Natsuko, Okubo, Yukimune, Endo, Wakaba, Uchida, Toshihiko, Togashi, Noriko, Naito, Etsuo, Haginoya, Kazuhiro

“…Pyruvate dehydrogenase complex (PDHC) deficiency is an inborn error of metabolism that causes lactic acidosis and neurodevelopmental changes. Five causative…”
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Hypoketotic hypoglycemia in citrin deficiency: a case report by Wada, Yoichi, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Sakamoto, Osamu, Kure, Shigeo

“…Citrin deficiency (CD) is a recessive metabolic disease caused by biallelic pathogenic variants in SLC25A13. Although previous studies have reported ketosis in…”
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Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion by 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

“…Solitary median maxillary central incisor (SMMCI) syndrome, the mildest form of the holoprosencephaly spectrum, is a rare anomaly characterized by the presence…”
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Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13 by Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Matsubara, Yoichi, Saheki, Takeyori, Kobayashi, Keiko, Ohura, Toshihro, Kure, Shigeo

“…Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has two disease outcomes: adult-onset type II citrullinemia…”
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Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia by 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

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Reversible brain atrophy in glutaric aciduria type 1 by Numata-Uematsu, Yurika, Sakamoto, Osamu, Kakisaka, Yosuke, Okubo, Yukimune, Oikawa, Yoshitsugu, Arai-Ichinoi, Natsuko, Kure, Shigeo, Uematsu, Mitsugu

“…Abstract Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. The typical clinical onset features…”
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Mucolipidosis IV: A milder form with novel mutations and serial MRI findings by Shiihara, Takashi, Watanabe, Mio, Moriyama, Kengo, Maruyama, Yasuhiro, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Uematsu, Mitsugu, Sameshima, Kiyoko

“…Abstract Background Mucolipidosis IV (MLIV; OMIM # 252650 ) is an autosomal recessive lysosomal storage disorder, frequently observed in the Ashkenazi Jewish…”
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Biallelic GALM pathogenicvariants cause a novel type of galactosemia by 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

“…PurposeGalactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir…”
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A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation by Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Togashi, Noriko, Sato, Ryo, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro

“…Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous multiple congenital contractures appearing at birth. Mutations in X-linked…”
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Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency by Mikami-Saito, Yasuko, Maekawa, Masamitsu, Wada, Yoichi, Kanno, Tomoe, Kurihara, Ai, Sato, Yuko, Yamamoto, Toshio, Arai-Ichinoi, Natsuko, Kure, Shigeo

“…Newborn screening is a public health care program worldwide to prevent patients from critical illness or conditions. Tandem mass spectrometry allows multiplex,…”
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Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation by 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

“…Abstract We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha…”
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The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants by Iwasawa, Shinya, Kikuchi, Atsuo, Wada, Yoichi, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Tamiya, Gen, Kure, Shigeo

“…Galactosemia is a metabolic disorder that affects the appropriate metabolism of β-D-galactose. Deficiencies in three of the enzymes of the Leloir pathway,…”
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