Search Results - "Kondo, Hidehito"

Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants by Miura, Aya, Kondo, Hidehito, Yamamoto, Takuma, Okumura, Yasuko, Nishio, Hajime

“…A Japanese girl with polycystic kidney disease (PKD) developed normally, but at 8 months of age, she was hospitalized for acute onset dyspnea. On the day after…”
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Severe congenital myasthenic syndrome with novel variants in the CHRND gene by Kondo, Hidehito, Tsuji, Yukiko, Lee, Tomoko, Saito, Yoshihiko, Nishino, Ichizo

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Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression by Nakaoka, Sachiko, Kondo, Hidehito, Matsuoka, Keiko, Shibuya, Toko, Otomo, Takanobu, Hamada, Yusuke, Sakamoto, Kenichi, Ozono, Keiichi, Sakai, Norio

“…In mucopolysaccharidoses (MPS), spinal cord compression (SCC) resulting from glycosaminoglycan (GAG) accumulation is a critical complication that can cause…”
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Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A by Hanafusa, Hiroaki, Yamaguchi, Hiroshi, Kondo, Hidehito, Nagasaka, Miwako, Juan Ye, Ming, Oikawa, Shizuka, Tokumoto, Shoichi, Tomioka, Kazumi, Nishiyama, Masahiro, Morisada, Naoya, Matsuo, Masafumi, Nozu, Kandai, Nagase, Hiroaki

“…Hemorrhagic shock and encephalopathy syndrome (HSES) is a serious condition that requires intensive care and is associated with a high mortality rate. However,…”
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Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type by Irahara-Miyana, Kaori, Otomo, Takanobu, Kondo, Hidehito, Hossain, Mohammad Arif, Ozono, Keiichi, Sakai, Norio

“…Krabbe disease, one of the autosomal-recessive lysosomal storage disorders (LSDs), is caused by a deficiency of galactocerebrosidase (GALC) activity, resulting…”
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Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum by Takada, Rei, Tozawa, Takenori, Kondo, Hidehito, Kizaki, Zenro, Kishita, Yoshihito, Okazaki, Yasushi, Murayama, Kei, Ohtake, Akira, Chiyonobu, Tomohiro

“…The mitochondrial DNA MT-ATP6 gene encodes the ATP6 subunit of the mitochondrial ATP synthase. The m.9185 T > C variant in MT-ATP6 has been reported to cause…”
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Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2 by Sakuma, Hiroshi, Takanashi, Jun-Ichi, Muramatsu, Kazuhiro, Kondo, Hidehito, Shiihara, Takashi, Suzuki, Motomasa, Okanari, Kazuo, Kasai, Mariko, Mitani, Osamu, Nakazawa, Tomoyuki, Omata, Taku, Shimoda, Konomi, Abe, Yuichi, Maegaki, Yoshihiro, Murayama, Kei, Murofushi, Yuka, Nagase, Hiroaki, Okumura, Akihisa, Sakai, Yasunari, Tada, Hiroko, Mizuguchi, Masashi

“…To clarify whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection cause acute encephalopathy in children and which are the most common…”
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Mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes with severe systemic symptoms: Pathology and biochemistry by Kondo, Hidehito, Fujita, Yasuko, Mizuno, Yosuke, Kihara, Minako, Murayama, Kei

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Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series by Satomura, Yoshinori, Bessho, Kazuhiko, Nawa, Nobutoshi, Kondo, Hidehito, Ito, Shogo, Togawa, Takao, Yano, Masanao, Yamano, Yuki, Inoue, Taisuke, Fukui, Miho, Onuma, Shinsuke, Fukuoka, Tomoya, Yasuda, Kie, Kimura, Takeshi, Tachibana, Makiko, Kitaoka, Taichi, Nabatame, Shin, Ozono, Keiichi

“…Arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is a rare autosomal recessive disorder caused by mutations in VPS33B (ARCS1) and VIPAS39…”
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Drug-induced acute kidney injury after taking a regular dose of valacyclovir by Hasegawa, Tomohiro, Okumura, Yasuko, Kondo, Hidehito, Matsuda, Shohei, Omoda, Kei, Nishida, Masashi

“…Valacyclovir (VACV) is an acyclovir (ACV) prodrug. We here report a case of a healthy girl who developed acute kidney injury (AKI) after taking a regular dose…”
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Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report by Kondo, Hidehito, Tanda, Koichi, Tabata, Chihiro, Hayashi, Kohei, Kihara, Minako, Kizaki, Zenro, Taniguchi-Ikeda, Mariko, Mori, Masato, Murayama, Kei, Ohtake, Akira

“…Abstract We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and…”
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常用量のバラシクロビル内服後に薬剤性腎障害を発症した小児例 by 長谷川, 智大, 奥村, 保子, 近藤, 秀仁, 松田, 翔平, 面田, 恵, 西田, 眞佐志

“…バラシクロビル（valacyclovir: VACV）は，アシクロビル（acyclovir: ACV）のプロドラッグで，小児での腎障害の報告は稀である．症例は14歳女児，帯状疱疹の診断で前医にてVACV 3,000…”
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Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant by Uda, Daisuke, Kondo, Hidehito, Tanda, Koichi, Kizaki, Zenro, Nishida, Masashi, Dai, Hongmei, Itoh, Masayuki

“…Joubert syndrome (JS) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar tooth…”
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Sudden death of a 2-year-old child due to alpha-ketoadipic aciduria by Kondou, Hiroki, Ichioka, Hiroaki, Akasaka, Yoshihisa, Kondo, Hidehito, Ikegaya, Hiroshi

“…Alpha-ketoadipic acid is one of the metabolic intermediates of lysine and tryptophan, and it is known as the biochemical hallmark of alpha-ketoadipic aciduria…”
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Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms by Kondo, Hidehito, Maksimova, Nadezda, Otomo, Takanobu, Kato, Hisakazu, Imai, Atsuko, Asano, Yoshihiro, Kobayashi, Kaori, Nojima, Satoshi, Nakaya, Akihiro, Hamada, Yusuke, Irahara, Kaori, Gurinova, Elizaveta, Sukhomyasova, Aitalina, Nogovicina, Anna, Savvina, Mira, Yoshimori, Tamotsu, Ozono, Keiichi, Sakai, Norio

“…Mucopolysaccharidoses (MPS) are a group of genetic deficiencies of lysosomal enzymes that catabolize glycosaminoglycans (GAG). Here we describe a novel…”
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Fatal cardiac dysfunction in a child with Williams syndrome by Kawai, Chihiro, Kondo, Hidehito, Miyao, Masashi, Sunada, Mariko, Ozawa, Seiichiro, Kotani, Hirokazu, Minami, Hirozo, Nagai, Hideki, Abiru, Hitoshi, Yamamoto, Akira, Tamaki, Keiji, Nishitani, Yoko

“…•Williams syndrome is a rare multisystem genetic microdeletion disorder.•We found signs of cardiac dysfunction in the infant case with Williams syndrome.•We…”
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Drug-induced acute kidney injury after taking a regular dose of valacyclovir by Hasegawa, Tomohiro, Okumura, Yasuko, Kondo, Hidehito, Matsuda, Shohei, Omoda, Kei, Nishida, Masashi

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Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study by Kasai, Mariko, Sakuma, Hiroshi, Abe, Yuichi, Kuki, Ichiro, Maegaki, Yoshihiro, Murayama, Kei, Murofushi, Yuka, Nagase, Hiroaki, Nishiyama, Masahiro, Okumura, Akihisa, Sakai, Yasunari, Tada, Hiroko, Mizuguchi, Masashi, Takanashi, Jun-ichi, Akamine, Satoshi, Chong, Pin Fee, Ema, Tatsuya, Enomoto, Sayaka, Fukatsu, Ryohei, Hanaoka, Yoshiyuki, Igarashi, Ayuko, Ikeda, Tae, Ishida, Kouhei, Ishikawa, Nobutsune, Itamura, Shinji, Iwayama, Hideyuki, Kawata, Nanako, Kawano, Go, Kikuchi, Kenjiro, Kobayashi, Osamu, Kondo, Hidehito, Korematsu, Seigo, Matsuoka, Tsuyoshi, Minamisawa, Yuki, Mitani, Osamu, Mizuma, Kanako, Mori, Tatsuo, Morichi, Shinichiro, Moriyama, Yoko, Motobayashi, Mitsuo, Motoi, Hirotaka, Muramatsu, Kazuhiro, Nakamura, Kazuyuki, Nakazawa, Tomoyuki, Negishi, Yutaka, Nishizawa, Yuka, Okada, Hiroshi, Okanari, Kazuo, Oki, Keisuke, Okumura, Yoshinori, Omata, Taku, Saeki, Saki, Sano, Fumikazu, Sano, Kentaro, Sato, Tatsuharu, Shiihara, Takashi, Shimoda, Konomi, Suzuki, Motomasa, Tanaka, Ryuta, Tokorodani, Chiho, Uematsu, Mitsugu, Yamada, Hiroyuki, Yamamoto, Naohiro, Yamamoto, Tatsuya, Yokoyama, Haruna

“…Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sometimes triggers acute encephalopathy as a serious neurological complication in children. We…”
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Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up by Ekuni, Satoshi, Hirayama, Kei, Nagasaka, Miwako, Osumi, Keita, Kondo, Hidehito, Nakahara, Erina, Shimojima Yamamoto, Keiko, Kanno, Hitoshi, Katayama, Yoshinori

“…BACKGROUND Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder caused by glutathione synthetase (GSS) gene variants that occur in 1…”
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Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1 by Kobayashi, Sachiko, Tanigawa, Junpei, Kondo, Hidehito, Nabatame, Shin, Maruoka, Azusa, Sho, Hiroyuki, Tanikawa, Kazuko, Inui, Ryoko, Otsuki, Michio, Shimomura, Iichiro, Ozono, Keiichi, Hashimoto, Kunihiko

“…Abstract Hartsfield syndrome (HS: OMIM 615465) is a rare congenital disease associated with a mutation of the fibroblast growth factor receptor 1 gene (FGFR1)…”
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